ClinVar Genomic variation as it relates to human health
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
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(4); Likely pathogenic(3); Uncertain significance(4)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
Variation ID: 212543 Accession: VCV000212543.39
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q37.1 2: 233768226 (GRCh38) [ NCBI UCSC ] 2: 234676872 (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 Oct 5, 2015 Mar 30, 2024 Jan 22, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000463.3:c.1091C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000454.1:p.Pro364Leu missense NM_001072.4:c.1088C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001063.2:p.Pro363Leu missense NM_007120.3:c.1094C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009051.1:p.Pro365Leu missense NM_019075.4:c.1082C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061948.1:p.Pro361Leu missense NM_019076.5:c.1082C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061949.3:p.Pro361Leu missense NM_019077.3:c.1082C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061950.2:p.Pro361Leu missense NM_019078.2:c.1094C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061951.1:p.Pro365Leu missense NM_019093.4:c.1094C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061966.1:p.Pro365Leu missense NM_021027.3:c.1082C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066307.1:p.Pro361Leu missense NM_019076.4:c.1082C>T NM_205862.3:c.287C>T NP_995584.1:p.Pro96Leu missense NC_000002.12:g.233768226C>T NC_000002.11:g.234676872C>T NG_002601.2:g.183483C>T NG_033238.1:g.12954C>T LRG_733:g.12954C>T LRG_733t1:c.1091C>T LRG_733p1:p.Pro364Leu - Protein change
- P361L, P363L, P364L, P365L, P96L
- Other names
- -
- Canonical SPDI
- NC_000002.12:233768225:C:T
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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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0.00220 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00053
Exome Aggregation Consortium (ExAC) 0.00124
The Genome Aggregation Database (gnomAD), exomes 0.00124
Trans-Omics for Precision Medicine (TOPMed) 0.00153
1000 Genomes Project 0.00220
1000 Genomes Project 30x 0.00234
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
Help
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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UGT1A | - | - | - | GRCh38 | - | 503 |
UGT1A1 | - | - |
GRCh38 GRCh37 |
1 | 349 | |
UGT1A10 | - | - |
GRCh38 GRCh37 |
- | 516 | |
UGT1A3 | - | - |
GRCh38 GRCh37 |
- | 371 | |
UGT1A4 | - | - |
GRCh38 GRCh37 |
- | 388 | |
UGT1A5 | - | - |
GRCh38 GRCh37 |
- | 404 | |
UGT1A6 | - | - |
GRCh38 GRCh37 |
- | 440 | |
UGT1A7 | - | - |
GRCh38 GRCh37 |
- | 483 | |
UGT1A8 | - | - |
GRCh38 GRCh37 |
- | 531 | |
UGT1A9 | - | - |
GRCh38 GRCh37 |
- | 503 |
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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Likely pathogenic (1) |
criteria provided, single submitter
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Sep 22, 2014 | RCV000194762.13 | |
Conflicting interpretations of pathogenicity; other (5) |
criteria provided, conflicting classifications
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Jan 22, 2024 | RCV000300556.32 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Oct 31, 2018 | RCV000763479.10 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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May 4, 2022 | RCV000999562.16 | |
Pathogenic (1) |
criteria provided, single submitter
|
- | RCV001250229.11 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Oct 11, 2023 | RCV003401059.4 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jan 16, 2024 | RCV003987438.1 |
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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Likely pathogenic
(Sep 22, 2014)
|
criteria provided, single submitter
Method: clinical testing
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Hyperbilirubinemia
Affected status: yes
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV000249367.1
First in ClinVar: Oct 05, 2015 Last updated: Oct 05, 2015 |
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other
(Aug 23, 2018)
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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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Eurofins Ntd Llc (ga)
Accession: SCV000335445.3
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 15
Sex: mixed
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Likely pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Gilbert syndrome
Crigler-Najjar syndrome type 1 Lucey-Driscoll syndrome Bilirubin, serum level of, quantitative trait locus 1 Crigler-Najjar syndrome, type II
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000894262.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Uncertain significance
(Apr 27, 2017)
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criteria provided, single submitter
Method: clinical testing
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Gilbert syndrome
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV001297726.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Crigler-Najjar syndrome type 1
Affected status: yes
Allele origin:
germline
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Centogene AG - the Rare Disease Company
Accession: SCV001424510.1
First in ClinVar: Jul 27, 2020 Last updated: Jul 27, 2020 |
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Pathogenic
(May 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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Gilbert syndrome
Affected status: unknown
Allele origin:
germline
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Mendelics
Accession: SCV002519937.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
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Uncertain significance
(May 01, 2023)
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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: SCV000521290.4
First in ClinVar: Mar 08, 2017 Last updated: May 13, 2023 |
Comment:
Published functional studies demonstrate a damaging effect with 35.6% enzyme activity compared to wild type (Takeuchi et al., 2004; Mimura et al., 2011); In silico … (more)
Published functional studies demonstrate a damaging effect with 35.6% enzyme activity compared to wild type (Takeuchi et al., 2004; Mimura et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23875061, 27264814, 30669781, 33083013, 31737051, 20981092, 15304120, 26727668, 29137095, 34426522, 31589614, 35257483, 25993113, 21726413, 35436954, 34953813, 31122244) (less)
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Likely pathogenic
(Oct 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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UGT1A1-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004103709.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The UGT1A1 c.1091C>T variant is predicted to result in the amino acid substitution p.Pro364Leu. This variant has been reported in the homozygous or compound heterozygous … (more)
The UGT1A1 c.1091C>T variant is predicted to result in the amino acid substitution p.Pro364Leu. This variant has been reported in the homozygous or compound heterozygous states in patients with Crigler–Najjar syndrome type II (Li et al. 2015. PubMed ID: 25993113; Wu et al. 2016. PubMed ID: 27264814). In other patients with Gilbert’s syndrome (a mild liver disorder), this variant was also reported in the compound heterozygous state along with other well-characterized risk factors for decreased UGT1A1 activity (Takeuchi et al. 2004. PubMed ID: 15304120; Maruo et al. 2014. PubMed ID: 24650397). Functional studies using COS7 cells showed that the p.Pro364Leu substitution reduced UGT1A1 activity by ~ 64% (Takeuchi et al. 2004. PubMed ID: 15304120; Mimura et al. 2011. PubMed ID: 21726413). In ClinVar, this variant was reported to have conflicting interpretations of pathogenicity ranging from uncertain to pathogenic by different laboratories (https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/clinvar/variation/212543/). In summary, the c.1091C>T variant is categorized as likely pathogenic. (less)
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Pathogenic
(Oct 10, 2022)
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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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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV004226550.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
PP3, PS3, PS4
Number of individuals with the variant: 5
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Uncertain significance
(Jan 22, 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: SCV001115248.6
First in ClinVar: Dec 17, 2019 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 364 of the UGT1A1 protein (p.Pro364Leu). … (more)
This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 364 of the UGT1A1 protein (p.Pro364Leu). This variant is present in population databases (rs34946978, gnomAD 1.2%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with Crigler-Najjar syndrome type II and/or Gilbert syndrome (PMID: 15304120, 27264814, 31737051, 34953813, 35257483, 35436954). This variant is also known as UGT1A1*63. ClinVar contains an entry for this variant (Variation ID: 212543). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt UGT1A1 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects UGT1A1 function (PMID: 15304120). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Pathogenic
(Oct 16, 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: SCV000884824.7
First in ClinVar: Dec 15, 2018 Last updated: Feb 20, 2024 |
Comment:
The UGT1A1 c.1091C>T; p.Pro364Leu variant (rs34946978), also known as UGT1A1*73, has been reported in neonates with severe hyperbilirubinemia (Huang 2002, Yang 2016, Yang 2021), and … (more)
The UGT1A1 c.1091C>T; p.Pro364Leu variant (rs34946978), also known as UGT1A1*73, has been reported in neonates with severe hyperbilirubinemia (Huang 2002, Yang 2016, Yang 2021), and also in multiple individuals either affected with Gilbert syndrome (Farheen 2006, Sun 2017, Takeuchi 2004) or Crigler-Najjar syndrome (Li 2015, Sun 2017, Yang 2016). In vitro functional analyses of this variant demonstrated a significant reduction in the UGT1A1 enzyme activity (Takeuchi 2004). This variant is also reported in ClinVar (Variation ID: 212543). This variant is found in the general population with an overall allele frequency of 0.1% (334/280448 alleles, including two homozygotes) in the Genome Aggregation Database. The proline at codon 364 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.836). Based on available information, this variant is considered to be pathogenic. References: Farheen S et al. Gilbert's syndrome: High frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene. World J Gastroenterol. 2006 Apr 14. PMID: 16610035 Huang CS et al. Relationship between bilirubin UDP-glucuronosyl transferase 1A1 gene and neonatal hyperbilirubinemia. Pediatr Res. 2002 Oct. PMID: 12357057 Li L et al. Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II. PLoS One. 2015 PMID: 25993113 Sun L et al. Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. Medicine (Baltimore). 2017 Nov. PMID: 29137095 Takeuchi K et al. Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. J Gastroenterol Hepatol. 2004 Sep. PMID: 15304120 Yang H et al. Clinical Significance of UGT1A1 Genetic Analysis in Chinese Neonates with Severe Hyperbilirubinemia. Pediatr Neonatol. 2016 Aug. PMID: 26727668 Yang H et al. UGT1A1 mutation association with increased bilirubin levels and severity of unconjugated hyperbilirubinemia in ABO incompatible newborns of China. BMC pediatrics. 2021 PMID: 34074250 (less)
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Uncertain significance
(Jan 16, 2024)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004803445.1
First in ClinVar: Mar 30, 2024 Last updated: Mar 30, 2024 |
Comment:
Variant summary: UGT1A1 c.1091C>T (p.Pro364Leu) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging … (more)
Variant summary: UGT1A1 c.1091C>T (p.Pro364Leu) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00045 in 1614202 control chromosomes in the gnomAD database, including 7 homozygotes (gnomAD). c.1091C>T has been reported in the literature in individuals affected with Gilberts Syndrome (example: Takeuchi_2004, Sun_2017, Wang_2022), neonatal unconjugated hyperbilirubinemia (example: Mei_2022, and Cozzi_2022), Crigler-Najjar syndrome type II (example: Sun_2017, and Wu_2016). One study has reported that this variant is a genetic risk factor for unconjugated hyperbilirubinemia (6.8 OR) (Bai_2019). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in 35.6% of normal activity (example: Takeuchi_2004, and Mimura_2011). The following publications have been ascertained in the context of this evaluation (PMID: 12105841, 34953813, 21726413, 29137095, 15304120, 31450232, 27264814, 26727668, 35436954, 33083013, 35257483). ClinVar contains an entry for this variant (Variation ID: 212543). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic. (less)
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Pathogenic
(May 01, 2019)
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no assertion criteria provided
Method: case-control
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Gilbert syndrome
Affected status: yes
Allele origin:
inherited
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Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University
Accession: SCV001156258.1
First in ClinVar: Feb 09, 2020 Last updated: Feb 09, 2020 |
Number of individuals with the variant: 20
Age: 25-55 years
Sex: mixed
Ethnicity/Population group: Chinese
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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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Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey. | Çağan Appak Y | Turkish archives of pediatrics | 2022 | PMID: 35781232 |
Gilbert or Crigler-Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity. | Cozzi L | Italian journal of pediatrics | 2022 | PMID: 35436954 |
Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population. | Gu L | Molecular genetics & genomic medicine | 2022 | PMID: 35426266 |
The utility of hierarchical genetic testing in paediatric liver disease. | Wang F | Liver international : official journal of the International Association for the Study of the Liver | 2022 | PMID: 35257483 |
Clinical and Genetic Etiologies of Neonatal Unconjugated Hyperbilirubinemia in the China Neonatal Genomes Project. | Mei H | The Journal of pediatrics | 2022 | PMID: 34953813 |
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. | Cheema H | NPJ genomic medicine | 2020 | PMID: 33083013 |
Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia. | Kim JJ | Annals of laboratory medicine | 2020 | PMID: 31858773 |
Molecular findings in children with inherited intrahepatic cholestasis. | Wang NL | Pediatric research | 2020 | PMID: 31450232 |
Combined Effects of UGT1A1 and SLCO1B1 Variants on Chinese Adult Mild Unconjugated Hyperbilirubinemia. | Bai J | Frontiers in genetics | 2019 | PMID: 31737051 |
[Study on spectrum of UGT1A1 mutations in connection with inherited non-hemolytic unconjugated hyperbilirubinemia]. | Xiong QF | Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology | 2018 | PMID: 30669781 |
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. | Sun L | Medicine | 2017 | PMID: 29137095 |
[Genetic analysis of a child affected with Crigler-Najjar syndrome type II]. | Wu Y | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2016 | PMID: 27264814 |
Clinical Significance of UGT1A1 Genetic Analysis in Chinese Neonates with Severe Hyperbilirubinemia. | Yang H | Pediatrics and neonatology | 2016 | PMID: 26727668 |
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II. | Li L | PloS one | 2015 | PMID: 25993113 |
Effect of common exon variant (p.P364L) on drug glucuronidation by the human UDP-glucuronosyltransferase 1 family. | Mimura Y | Basic & clinical pharmacology & toxicology | 2011 | PMID: 21726413 |
Gilbert's syndrome: High frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene. | Farheen S | World journal of gastroenterology | 2006 | PMID: 16610035 |
Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. | Takeuchi K | Journal of gastroenterology and hepatology | 2004 | PMID: 15304120 |
Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. | Blasi P | Molecular genetics and metabolism | 2002 | PMID: 12208142 |
Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia. | Huang CS | Gastroenterology | 2002 | PMID: 12105841 |
Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese. | Huang CS | Pharmacogenetics | 2000 | PMID: 10975608 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=UGT1A1 | - | - | - | - |
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Text-mined citations for rs34946978 ...
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.