ClinVar Genomic variation as it relates to human health
NM_000518.4(HBB):c.[364G>C;79G>A]
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
NM_000518.4(HBB):c.[364G>C;79G>A]
- Other names
- HBB, GLU26LYS AND GLU121GLN
- Hb T-Cambodia
- Functional consequence
- -
- Links
- ClinGen: CA037744
- OMIM: 141900.0276
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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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
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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 |
LOC110006319 | - | - | - | GRCh38 | - | 976 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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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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other (1) |
no assertion criteria provided
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Jul 20, 2016 | RCV000016617.12 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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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
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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
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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
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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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other
(Jul 20, 2016)
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no assertion criteria provided
Method: literature only
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HEMOGLOBIN T (CAMBODIA)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000036886.2
First in ClinVar: Apr 04, 2013 Last updated: Jul 24, 2016 |
Comment on evidence:
See Barwick et al. (1985). Combines substitutions of Hb E and Hb O (Arab): substitution of lysine for glutamic acid at beta 26 and of … (more)
See Barwick et al. (1985). Combines substitutions of Hb E and Hb O (Arab): substitution of lysine for glutamic acid at beta 26 and of glutamine for glutamic acid at beta 121. (less)
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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 |
Sickle Cell Disease. | Adam MP | - | 2023 | PMID: 20301551 |
Sickle Cell Disease. | Adam MP | - | 2023 | PMID: 20301551 |
Hb Brugg [HBA1:c.63C>A]: Report of an Ultra-Rare Variant Hemoglobin and Its Co-inheritance with Hb D-Punjab. | Sharma A | Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion | 2021 | PMID: 33867742 |
An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C). | van Gammeren AJ | Hemoglobin | 2020 | PMID: 31973650 |
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis. | Scheps KG | Human mutation | 2020 | PMID: 31553106 |
Rare Association of Hb D-Los Angeles (HBB: c.364G>C) with Hb H Disease: Diagnosis and Clinical Implications. | Zioga A | Hemoglobin | 2018 | PMID: 30626242 |
Clinical, Hematological and Molecular Analysis of Homozygous Hb E (HBB: c.79G > A) in the Indian Population. | Jayasree D | Hemoglobin | 2016 | PMID: 26554862 |
Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. | Torres Lde S | Revista brasileira de hematologia e hemoterapia | 2015 | PMID: 25818823 |
Coinheritance of Hb D-Punjab and β-thalassemia: diagnosis and implications in prenatal diagnosis. | Das S | Hemoglobin | 2015 | PMID: 25666204 |
Molecular characterization of a β-thalassemia intermedia patient presenting inferior vena cava thrombosis: interaction of the β-globin erythroid Krüppel-like factor binding site mutation with Hb E and α(+)-thalassemia. | Prajantasen T | Hemoglobin | 2014 | PMID: 25370867 |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. | Tabor HK | American journal of human genetics | 2014 | PMID: 25087612 |
Haemoglobin sickle d punjab: - a case report. | Rahimah A | The Medical journal of Malaysia | 2014 | PMID: 24814631 |
The effect of hydroxyurea on compound heterozygotes for sickle cell-hemoglobin D-Punjab--a single centre experience in eastern India. | Patel S | Pediatric blood & cancer | 2014 | PMID: 24616059 |
Variability of hemoglobin F expression in hemoglobin EE disease: hematological and molecular analysis. | Pakdee N | Blood cells, molecules & diseases | 2014 | PMID: 24581976 |
Hemoglobin Constant Spring is markedly high in women of an ethnic minority group in Vietnam: a community-based survey and hematologic features. | Nguyen VH | Blood cells, molecules & diseases | 2014 | PMID: 24368026 |
Fetal hemoglobin and alpha thalassemia modulate the phenotypic expression of HbSD-Punjab. | Patel DK | International journal of laboratory hematology | 2014 | PMID: 24245819 |
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar. | Rodriguez-Flores JL | Human mutation | 2014 | PMID: 24123366 |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. | Lazarin GA | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22975760 |
A transgenic mouse model expressing exclusively human hemoglobin E: indications of a mild oxidative stress. | Chen Q | Blood cells, molecules & diseases | 2012 | PMID: 22260787 |
In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene. | Alanazi M | PloS one | 2011 | PMID: 22028795 |
In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene. | Alanazi M | PloS one | 2011 | PMID: 22028795 |
Molecular analysis of globin gene expression in different thalassaemia disorders: individual variation of β(E) pre-mRNA splicing determine disease severity. | Tubsuwan A | British journal of haematology | 2011 | PMID: 21732929 |
Co-inheritance of hemoglobin D and β-thalassemia traits in three Iranian families: clinical relevance. | Taghavi Basmanj M | Archives of Iranian medicine | 2011 | PMID: 21194265 |
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 |
Does elevated hemoglobin F modulate the phenotype in Hb SD-Los Angeles? | Adekile A | Acta haematologica | 2010 | PMID: 20110664 |
Multi centric origin of Hb D-Punjab [beta121(GH4)Glu-->Gln, GAA>CAA]. | Yavarian M | Hemoglobin | 2009 | PMID: 19958184 |
Interaction of malaria with a common form of severe thalassemia in an Asian population. | O'Donnell A | Proceedings of the National Academy of Sciences of the United States of America | 2009 | PMID: 19841268 |
Global epidemiology of haemoglobin disorders and derived service indicators. | Modell B | Bulletin of the World Health Organization | 2008 | PMID: 18568278 |
Hemoglobin e syndromes. | Vichinsky E | Hematology. American Society of Hematology. Education Program | 2007 | PMID: 18024613 |
Hemoglobin SE disease: a concise review. | Masiello D | American journal of hematology | 2007 | PMID: 17278112 |
Thalassemia and hemoglobinopathies rather than iron deficiency are major causes of pregnancy-related anemia in northeast Thailand. | Sanchaisuriya K | Blood cells, molecules & diseases | 2006 | PMID: 16750922 |
The beta-globin gene haplotypes associated with Hb D-Los Angeles [beta121(GH4)Glu --> Gln] in Western Iran. | Rahimi Z | Hemoglobin | 2006 | PMID: 16540414 |
High incidence of Hb D-Los Angeles [beta121(GH4)Glu-->Gln] in Denizli Province, Aegean region of Turkey. | Atalay EO | Hemoglobin | 2005 | PMID: 16370495 |
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. | Edison ES | Hemoglobin | 2005 | PMID: 16114182 |
The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. | Flatz G | Hemoglobin | 2004 | PMID: 15481886 |
Genotypes and phenotypes--another lesson from the hemoglobinopathies. | Benz EJ Jr | The New England journal of medicine | 2004 | PMID: 15470211 |
Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. | Ohashi J | American journal of human genetics | 2004 | PMID: 15114532 |
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. | Premawardhena A | Blood cells, molecules & diseases | 2003 | PMID: 12850492 |
Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis. | Shaji RV | Clinical chemistry | 2003 | PMID: 12709369 |
Molecular characterization of Hb D-Punjab [beta121(GH4)Glu-->Gln] in Thailand. | Fucharoen S | Hemoglobin | 2002 | PMID: 12403491 |
Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. | Chotivanich K | Blood | 2002 | PMID: 12149194 |
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. | Premawardhena A | Lancet (London, England) | 2001 | PMID: 11425418 |
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? | Beutler E | Proceedings of the National Academy of Sciences of the United States of America | 1998 | PMID: 9653159 |
Hb T-Cambodia, a beta chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis. | Hutt PJ | Hemoglobin | 1997 | PMID: 9140717 |
Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. | Rees DC | Blood | 1996 | PMID: 8839873 |
DNA polymorphisms associated with Hb D-Los Angeles [beta 121(GH4)Glu-->Gln] in southern Italy. | Fioretti G | Hemoglobin | 1993 | PMID: 8095930 |
Sickle cell-hemoglobin E disease: clinical findings and implications. | Rey KS | The Journal of pediatrics | 1991 | PMID: 1960615 |
Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level. | Schnee J | Human genetics | 1990 | PMID: 2307460 |
A new slow-moving hemoglobin variant Hb Tianshui or alpha 2 beta(2)39(C5)Gln----Arg, observed in a Chinese family living in Gansu. | Li HJ | Hemoglobin | 1990 | PMID: 2079437 |
Facilitation of Hb S polymerization by the substitution of Glu for Gln at beta 121. | Adachi K | The Journal of biological chemistry | 1988 | PMID: 2895770 |
Direct detection of haemoglobin E with MnlI. | Thein SL | Journal of medical genetics | 1987 | PMID: 3031297 |
Hb D Los Angeles [beta 121 Glu----Gln] in Japan. | Harano T | Hemoglobin | 1987 | PMID: 2887538 |
A note about the incidence and origin of Hb D-Punjab in Xinjiang, People's Republic of China. | Li HJ | Hemoglobin | 1986 | PMID: 3557998 |
Hemoglobin D-Los Angeles [beta 121(GH4)Glu----Gln] in the Province of Liège, Belgium. | Husquinet H | Hemoglobin | 1986 | PMID: 3557993 |
The first observation of Hb D Punjab beta zero thalassaemia in an English family with 22 cases of unsuspected beta zero thalassaemia minor among its members. | Worthington S | Journal of medical genetics | 1985 | PMID: 4078867 |
Haemoglobin D Punjab. Interaction with alpha thalassaemia and diagnosis by gene mapping. | Trent RJ | Scandinavian journal of haematology | 1984 | PMID: 6322284 |
Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene. | Kazazian HH Jr | American journal of human genetics | 1984 | PMID: 6198908 |
Abnormal RNA processing due to the exon mutation of beta E-globin gene. | Orkin SH | Nature | 1982 | PMID: 7177196 |
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. | Orkin SH | Nature | 1982 | PMID: 6280057 |
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. | Antonarakis SE | Proceedings of the National Academy of Sciences of the United States of America | 1982 | PMID: 6275383 |
Hemoglobin G-Taipei in three additional Chinese families. | Zeng YT | Hemoglobin | 1981 | PMID: 7338475 |
Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys). | Benz EJ Jr | The Journal of clinical investigation | 1981 | PMID: 6166632 |
Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. | Fairbanks VF | American journal of hematology | 1980 | PMID: 7395858 |
Hemoglobins Aida (alpha 64 Asp leads to Asn) and D-Los Angeles (beta 121 Glu leads to Gln) in an Asian-Indian family. | Bunn HF | Hemoglobin | 1978 | PMID: 750553 |
Globin chain synthesis in HbD (Punjab)-beta-thalassemia. | Rieder RF | Blood | 1976 | PMID: 1244906 |
Homozygous haemoglobin D Punjab. | Politis-Tsegos C | Journal of medical genetics | 1975 | PMID: 1177278 |
A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia. | Weatherall DJ | British journal of haematology | 1973 | PMID: 4351905 |
Identification of hemoglobin Oak ridge with hemoglobin D Punjab (Los Angeles). | Imamura T | Biochemical genetics | 1972 | PMID: 5050915 |
Homozygous hemoglobin D Punjab. | Ozsoylu S | Acta haematologica | 1970 | PMID: 4991321 |
Hemoglobin D Los Angeles in two Caucasian families: hemoglobin SD disease and hemoglobin D thalassemia. | Schneider RG | Blood | 1968 | PMID: 5672850 |
Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala. | Blackwell RW | Science (New York, N.Y.) | 1968 | PMID: 5658717 |
Haemoglobin E and beta-thalassaemia: their distribution in Thailand. | Flatz G | Annals of human genetics | 1965 | PMID: 5863839 |
HEMOGLOBIN D IN AN OKLAHOMA FAMILY. | STOUT C | Archives of internal medicine | 1964 | PMID: 14160125 |
SPECTROPHOTOMETRIC DETERMINATION OF HB M-IWATE IN THE HEMOLYSATE OF HEREDITARY NIGREMIA. | SHIBATA S | The Bulletin of the Yamaguchi Medical School | 1963 | PMID: 14091853 |
Abnormal human haemoglobins. VII. The comparison of normal human haemoglobin and haemoglobin D-Chicago. | BOWMAN B | Biochimica et biophysica acta | 1961 | PMID: 13872094 |
Abnormal human haemoglobins. VI. The chemical difference between haemoglobins A and E. | HUNT JA | Biochimica et biophysica acta | 1961 | PMID: 13716853 |
Three varieties of human haemoglobin D. | LEHMANN H | Nature | 1958 | PMID: 13590135 |
Barwick, R. C., Head, C. G., Hih, M. F.-C., Block, S. H., Jones, R. T. Hb T-Cambodia (beta26 (B8) glu-to-lys, beta121 (GH4) glu-to-gln) a new doubly substituted beta globin variant found in a Cambodian family. (Abstract) Blood 66: 68A, 1985. | - | - | - | - |
http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=509 | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=HBB | - | - | - | - |
http://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/sites/GeneTests/review/gene/HBB | - | - | - | - |
https://ithanet.eu/db/ithagenes?ithaID=88 | - | - | - | - |
Kazazian, H. H., Jr. Personal Communication. 1992. Baltimore, Md. | - | - | - | - |
Lehmann, H. Haemolyse aufgrund instabiler Haemoglobine. In: Nowicki, L., Martin, H., Schubert, J. C. F. (eds.) Haemolyse-haemolytische Erkrankungen. Munich: J. F. Lehmanns Verlag (pub.) 1973. | - | - | - | - |
Schneider, R. Personal Communication. 1978. Galveston, Tex. | - | - | - | - |
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Text-mined citations for this variant ...
HelpRecord last updated Apr 15, 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.