ClinVar Genomic variation as it relates to human health
NM_000518.5(HBB):c.-151C>T
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic(10); Uncertain significance(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000518.5(HBB):c.-151C>T
Variation ID: 15461 Accession: VCV000015461.39
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p15.4 11: 5227172 (GRCh38) [ NCBI UCSC ] 11: 5248402 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 29, 2015 Apr 20, 2024 Mar 25, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000518.5:c.-151C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NC_000011.10:g.5227172G>A NC_000011.9:g.5248402G>A NG_000007.3:g.70444C>T NG_042296.1:g.703G>A NG_046672.1:g.5107G>A NG_059281.1:g.4900C>T LRG_1232:g.4900C>T LRG_1232t1:c.-151C>T - Protein change
- Other names
- -101C>T
- -101C-T, PROMOTER
- Canonical SPDI
- NC_000011.10:5227171:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD) 0.00003
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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HBB | - | - |
GRCh38 GRCh37 |
21 | 1815 | |
LOC106099062 | - | - | - | GRCh38 | - | 849 |
LOC107133510 | - | - | - | GRCh38 | - | 1767 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
no assertion criteria provided
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Dec 1, 1999 | RCV000016719.37 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Nov 3, 2022 | RCV000169081.16 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Jan 11, 2024 | RCV000820736.28 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 2, 2022 | RCV002496384.8 | |
Uncertain significance (1) |
criteria provided, single submitter
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Mar 25, 2024 | RCV003989290.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 28, 2023 | RCV003904845.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Aug 07, 2017)
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criteria provided, single submitter
Method: clinical testing
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beta Thalassemia
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697087.1
First in ClinVar: Mar 29, 2015 Last updated: Mar 29, 2015 |
Comment:
Variant summary: c.-151C>T affects a non-conserved nucleotide in the promoter of HBB gene. Mutation Taster predicts a damaging outcome for this variant. This prediction was … (more)
Variant summary: c.-151C>T affects a non-conserved nucleotide in the promoter of HBB gene. Mutation Taster predicts a damaging outcome for this variant. This prediction was confirmed by a CAT promoter activity assay showing that this variant decreased promoter activity by 70% (Gonzalez-Redondo_1989). This variant was found in 1/31016 control chromosomes at a frequency of 0.0000322, which does not exceed the estimated maximal expected allele frequency of a pathogenic HBB variant (0.0111803). This variant is a well-known pathogenic HBB variant and has been reported in more than thirty unrelated patients with b-thalassemia intermedia. In addition, multiple clinical laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant was classified as pathogenic. (less)
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Pathogenic
(Apr 17, 2014)
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criteria provided, single submitter
Method: literature only
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beta Thalassemia
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000220255.2
First in ClinVar: Mar 29, 2015 Last updated: Dec 24, 2022 |
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Pathogenic
(Mar 02, 2022)
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criteria provided, single submitter
Method: clinical testing
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Heinz body anemia
Hereditary persistence of fetal hemoglobin Dominant beta-thalassemia Hb SS disease alpha Thalassemia Malaria, susceptibility to Beta-thalassemia HBB/LCRB Methemoglobinemia, beta-globin type Erythrocytosis, familial, 6
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002809346.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Sep 15, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV002574669.2
First in ClinVar: Sep 24, 2022 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate a significant loss of function (Gonzalez-Redondo et al., 1989); Not observed at significant frequency in large population cohorts (gnomAD); Reported as … (more)
Published functional studies demonstrate a significant loss of function (Gonzalez-Redondo et al., 1989); Not observed at significant frequency in large population cohorts (gnomAD); Reported as the most common silent beta-thalassemia variant among individuals of Mediterranean background (Maragoudaki et al., 1999); This variant is associated with the following publications: (PMID: 2001456, 7683931, 2346726, 25910213, 2713503, 7909640, 26202972, 28385923, 31395865, 34426522, 10606872) (less)
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Pathogenic
(Jan 11, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000961462.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
This variant occurs in a non-coding region of the HBB gene. It does not change the encoded amino acid sequence of the HBB protein. This … (more)
This variant occurs in a non-coding region of the HBB gene. It does not change the encoded amino acid sequence of the HBB protein. This variant is present in population databases (rs63751208, gnomAD 0.007%). This variant has been observed in individuals with HBB-related conditions, usually co-occurring with another severe beta-thalassemia variant (PMID: 2001456, 2713503, 10606872). It has also been observed to segregate with disease in related individuals. Of note, one homozygous individual was reported with beta-thalassemia intermedia (PMID: 30820323). This variant is also known as -101C>T. Studies have shown that this variant alters HBB gene expression (PMID: 2713503). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Apr 03, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001474278.4
First in ClinVar: Jan 26, 2021 Last updated: Feb 20, 2024 |
Comment:
The HBB c.-151C>T variant (rs63751208, HbVar ID: 649), also known as -101C>T, is associated with silent beta thalassemia in heterozygous carriers and has been described … (more)
The HBB c.-151C>T variant (rs63751208, HbVar ID: 649), also known as -101C>T, is associated with silent beta thalassemia in heterozygous carriers and has been described in individuals with a mild form of thalassemia intermedia who were compound heterozygous with a severe beta thalassemia variant (Gonzalez-Redondo 1989, Ristaldi 1990, Rund 1997, see HbVar and references therein). This variant is also reported in ClinVar (Variation ID: 15461). It is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant is located in a conserved region of the beta globin gene promoter and is considered to be pathogenic. References: Link to HbVar database: https://globin.bx.psu.edu/hbvar/menu.html Gonzalez-Redondo JM et al. A C----T substitution at nt--101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with "silent" beta-thalassemia. Blood. 1989 May 1;73(6):1705-11. PMID: 2713503 Ristaldi MS et al. The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population. Br J Haematol. 1990 Apr;74(4):480-6. PMID: 2346726 Rund D et al. Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype. Am J Hematol. 1997 Jan;54(1):16-22. PMID: 8980256 (less)
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Pathogenic
(Dec 28, 2023)
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criteria provided, single submitter
Method: clinical testing
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HBB-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004724943.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The HBB c.-151C>T variant is located in the 5' untranslated region. This variant, also referred to as c.-101C>T using legacy nomenclature, is predicted to disrupt … (more)
The HBB c.-151C>T variant is located in the 5' untranslated region. This variant, also referred to as c.-101C>T using legacy nomenclature, is predicted to disrupt the CACCC promoter motif and has been reported to be causative for Beta-Thalassemia in the presence of a second pathogenic allele (Gonzalez-Redondo et al. 1989. PubMed ID: 2713503; Rund et al. 1997. PubMed ID: 8980256; Ristaldi et al. 1999. PubMed ID: 10575515). This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic. (less)
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Uncertain significance
(Mar 25, 2024)
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criteria provided, single submitter
Method: clinical testing
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Malaria, susceptibility to
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004806295.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
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Pathogenic
(Nov 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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beta Thalassemia
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004847530.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The c.-151C>T variant in HBB, also known as -101C>T, has been reported in the compound heterozygous state with a severe beta thalassemia variant in numerous … (more)
The c.-151C>T variant in HBB, also known as -101C>T, has been reported in the compound heterozygous state with a severe beta thalassemia variant in numerous individuals with a mild form of thalassemia intermedia. It is the most common silent beta-thalassemia variant among individuals of Mediterranean descent (Gonzalez-Redondo 1989 PMID: 2713503, Ristaldi 1990 PMID: 2346726, Rund 1997 PMID: 8980256, HbVar, Maragoudaki 1999 PMID: 10606872). It has also been reported in ClinVar (Variation ID 15461) and has been identified in 10/68034 European chromosomes by gnomAD (https://gnomad.broadinstitute.org/). This variant occurs in the beta-globin promoter, and in vitro functional studies support an impact on promoter activity (Gonzalez-Redondo 1989 PMID: 2713503). In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive beta thalassemia. ACMG/AMP Criteria applied: PM2_Supporting, PS4, PM1. (less)
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Pathogenic
(Jun 04, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001470514.3
First in ClinVar: Jan 26, 2021 Last updated: Jan 06, 2024 |
Comment:
The c.-151C>T variant (also known as -101(C>T)) is located 101-bp upstream of the transcription initiation site. It causes slightly decreased transcription of the beta-globin gene, … (more)
The c.-151C>T variant (also known as -101(C>T)) is located 101-bp upstream of the transcription initiation site. It causes slightly decreased transcription of the beta-globin gene, and is associated with beta (+)-thalassemia. Approximately one-third of individuals heterozygous for this variant have normal hematologic findings, with the remainder having either a slightly reduced MCH, slightly elevated levels of Hb A2, or a slight globin imbalance (, PMID: 2713503 (1989), 2346726 (1990), 10606872 (1999)). (less)
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Pathogenic
(Jun 18, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002024961.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Dec 01, 1999)
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no assertion criteria provided
Method: literature only
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BETA-PLUS-THALASSEMIA
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000036989.3
First in ClinVar: Apr 04, 2013 Last updated: May 09, 2018 |
Comment on evidence:
Gonzalez-Redondo et al. (1989) found a C-to-T change in nucleotide -101 in an asymptomatic Turkish carrier of beta-thalassemia. This is one of the transcriptional mutants … (more)
Gonzalez-Redondo et al. (1989) found a C-to-T change in nucleotide -101 in an asymptomatic Turkish carrier of beta-thalassemia. This is one of the transcriptional mutants causing beta-thalassemia. Ristaldi et al. (1990) showed that this mutation is a relatively frequent cause of beta-thalassemia in the Italian population, where it is always associated with haplotype 1. Compound heterozygosity for this promoter mutation and a mutation for severe beta-thalassemia results in a mild form of thalassemia intermedia (Murru et al., 1991). In studies of infants of Italian couples, 1 member of which was heterozygous for this promoter mutation, Murru et al. (1993) demonstrated that mutation leads to a more severe defect in beta-globin chain production in infancy than in adulthood. The moment of transition from the fetal-infant to the adult pattern of expression seems to be at about 2 years of age. This age-related pattern of expression had not been detected for other beta-thalassemia mutations. Assuming the existence of different distal CACCC box binding proteins with an activating function on the beta-globin gene promoter in fetal and adult ages, Murru et al. (1993) speculated that the fetal type interacts less efficiently with the mutated CACCC promoter as compared with the adult one. They suggested that the findings permit one to predict a mild phenotype even when HbA is absent in the newborn. Maragoudaki et al. (1999) reported the clinical, hematologic, biosynthetic, and molecular data on 25 double heterozygote beta-thalassemia intermedia patients and 45 beta-thalassemia heterozygotes with the C-to-T substitution at nucleotide position -101 from the cap site, in the distal CACCC box of the HBB promoter. This mutation is considered the most common among the silent beta-thalassemia mutations in Mediterranean populations. Of the 25 compound heterozygotes for the promoter mutation and common severe beta-thalassemia mutations, all but 1 had mild thalassemia intermedia preserving hemoglobin levels around 9.5 g/dl and hemoglobin F levels less than 25%. Strict assessment of hematologic and biosynthetic findings in the heterozygotes for the promoter mutation demonstrated that less than half of them had completely normal (silent) hematology. (less)
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Pathogenic
(Sep 11, 2023)
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no assertion criteria provided
Method: clinical testing
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beta Thalassemia
Affected status: yes
Allele origin:
germline
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Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
Accession: SCV004244273.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Pathogenic
(Mar 17, 2017)
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no assertion criteria provided
Method: clinical testing
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Beta thalassemia
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV002091640.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
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not provided
(-)
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no classification provided
Method: literature only
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beta Thalassemia
Affected status: unknown
Allele origin:
germline
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GeneReviews
Accession: SCV000537286.3
First in ClinVar: Mar 29, 2015 Last updated: Oct 01, 2022 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Beta-Thalassemia. | Adam MP | - | 2024 | PMID: 20301599 |
Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine. | Faraon R | BMC hematology | 2019 | PMID: 30820323 |
Phenotype of mutations in the promoter region of the β-globin gene. | Ropero P | Journal of clinical pathology | 2017 | PMID: 28385923 |
Clinical and Molecular Characteristics of Non-Transfusion-Dependent Thalassemia in Kuwait. | Adekile AD | Hemoglobin | 2015 | PMID: 26076396 |
Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation. | Ozkinay F | Hemoglobin | 2015 | PMID: 26076395 |
Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries. | Hassan SM | Hemoglobin | 2015 | PMID: 25677748 |
A genetic score for the prediction of beta-thalassemia severity. | Danjou F | Haematologica | 2015 | PMID: 25480500 |
Evaluation of the validity of Hb A2 and mean corpuscular haemoglobin action values in antenatal screening for beta thalassaemia carriers in England. | Daniel Y | British journal of haematology | 2014 | PMID: 24754789 |
Prenatal and newborn screening for hemoglobinopathies. | Hoppe CC | International journal of laboratory hematology | 2013 | PMID: 23590658 |
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia. | Shammas C | Clinical chemistry and laboratory medicine | 2010 | PMID: 20704537 |
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). | Al-Gazali L | Human mutation | 2010 | PMID: 20437613 |
Three new beta-thalassemia mutations with varying degrees of severity. | Frischknecht H | Hemoglobin | 2009 | PMID: 19657836 |
Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity. | Agouti I | Genetic testing | 2008 | PMID: 18976160 |
Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia. | Giambona A | Haematologica | 2008 | PMID: 18603555 |
The molecular heterogeneity of beta-thalassemia in Greece. | Boussiou M | Blood cells, molecules & diseases | 2008 | PMID: 18096416 |
Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. | Giambona A | Haematologica | 2006 | PMID: 17145605 |
Clinical and molecular aspects of haemoglobinopathies in Tunisia. | Haj Khelil A | Clinica chimica acta; international journal of clinical chemistry | 2004 | PMID: 14734204 |
Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing. | Najmabadi H | Haematologica | 2002 | PMID: 12368169 |
Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles. | Colosimo A | Human mutation | 2002 | PMID: 11857746 |
Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes. | Maragoudaki E | British journal of haematology | 1999 | PMID: 10606872 |
Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter. | Huisman TH | Acta haematologica | 1997 | PMID: 9401495 |
A significant beta-thalassemia heterogeneity in the United Arab Emirates. | el-Kalla S | Hemoglobin | 1997 | PMID: 9140720 |
Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype. | Rund D | American journal of hematology | 1997 | PMID: 8980256 |
Genotype of subjects with borderline hemoglobin A2 levels: implication for beta-thalassemia carrier screening. | Galanello R | American journal of hematology | 1994 | PMID: 8172199 |
Binding of nuclear factors to the proximal and distal CACCC motifs of the beta-globin gene promoter: implications for the -101 (C-->T) 'silent' beta-thalassemia mutation. | Baysal E | Acta haematologica | 1994 | PMID: 7909640 |
A promoter mutation of the beta-globin gene (-101 C-->T) has an age-related expression pattern. | Murru S | Blood | 1993 | PMID: 7683931 |
Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations. | Murru S | Blood | 1991 | PMID: 2001456 |
The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population. | Ristaldi MS | British journal of haematology | 1990 | PMID: 2346726 |
Beta-thalassemia in Turkey. | Oner R | Hemoglobin | 1990 | PMID: 2200760 |
Characterization of three types of beta zero-thalassemia resulting from a partial deletion of the beta-globin gene. | Gonzalez-Redondo JM | Hemoglobin | 1989 | PMID: 2753736 |
A C----T substitution at nt--101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with "silent" beta-thalassemia. | Gonzalez-Redondo JM | Blood | 1989 | PMID: 2713503 |
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Text-mined citations for rs63751208 ...
HelpRecord last updated Apr 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.