chr2:233760498:G>A Detail (hg38) (UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3)

Information

Genome

Assembly Position
hg19 chr2:234,669,144-234,669,144 View the variant detail on this assembly version.
hg38 chr2:233,760,498-233,760,498

HGVS

Type Transcript Protein
RefSeq NM_000463.2:c.211G>A NP_000454.1:p.Gly71Arg
Ensemble ENST00000305208.10:c.211G>A ENST00000305208.10:p.Gly71Arg
ENST00000360418.4:c.211G>A ENST00000360418.4:p.Gly71Arg
Type Transcript Protein
RefSeq NM_019075.2:c.856-6536G>A
Ensemble ENST00000344644.10:c.856-6536G>A
ENST00000373445.1:c.856-6536G>A
Type Transcript Protein
RefSeq NM_019093.2:c.868-6536G>A
Ensemble ENST00000482026.6:c.868-6536G>A
Type Transcript Protein
RefSeq NM_007120.2:c.868-6536G>A
Ensemble ENST00000373409.8:c.868-6536G>A
Type Transcript Protein
RefSeq NM_019078.1:c.868-6536G>A
Ensemble ENST00000373414.4:c.868-6536G>A
Type Transcript Protein
RefSeq NM_001072.3:c.862-6536G>A
NM_205862.1:c.61-6536G>A
Ensemble ENST00000305139.11:c.862-6536G>A
Type Transcript Protein
RefSeq NM_019077.2:c.856-6536G>A
Ensemble ENST00000373426.4:c.856-6536G>A
Type Transcript Protein
RefSeq NM_019076.4:c.856-6536G>A
Ensemble ENST00000373450.5:c.856-6536G>A
Type Transcript Protein
RefSeq NM_021027.2:c.856-6536G>A
Ensemble ENST00000354728.5:c.856-6536G>A
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 23
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.179
ToMMo:0.181
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.152

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity; drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 191740 OMIM
HGNC 12530 HGNC
Ensembl ENSG00000241635 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10920796 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606435 OMIM
HGNC 12531 HGNC
Ensembl ENSG00000242515 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10920796 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606428 OMIM
HGNC 12535 HGNC
Ensembl ENSG00000288702 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10920796 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606429 OMIM
HGNC 12536 HGNC
Ensembl ENSG00000244474 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10920796 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606430 OMIM
HGNC 12537 HGNC
Ensembl ENSG00000288705 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10920796 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606431 OMIM
HGNC 12538 HGNC
Ensembl ENSG00000167165 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10920796 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606432 OMIM
HGNC 12539 HGNC
Ensembl ENSG00000244122 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10920796 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606433 OMIM
HGNC 12540 HGNC
Ensembl ENSG00000242366 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10920796 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606434 OMIM
HGNC 12541 HGNC
Ensembl ENSG00000241119 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10920796 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000083
(TMGS000166) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Keio University
Pathogenic other germline MGS000001
(TMGS000178) 		Kenjiro Kosaki Keio University
Pathogenic Gerbert Syndrome germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
not provided hiv-infection/aids not provided MGS000006
(TMGS000008) 		Tetsuro Matano National Institute of Infectious diseases
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2017-04-27 criteria provided, conflicting interpretations Gilbert syndrome germline inherited Detail
Pathogenic 2013-01-01 no assertion criteria provided Lucey-Driscoll syndrome germline Detail
association 2013-01-01 no assertion criteria provided Bilirubin, serum level of, quantitative trait locus 1 germline Detail
Conflicting interpretations of pathogenicity 2023-08-15 criteria provided, conflicting interpretations not specified germline Detail
drug response 2018-04-04 criteria provided, single submitter germline Detail
Likely pathogenic 2019-05-28 criteria provided, single submitter Crigler-Najjar syndrome, type II unknown Detail
Conflicting interpretations of pathogenicity 2024-01-25 criteria provided, conflicting interpretations not provided germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Aortic Aneurysm, Thoracic We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome ... BeFree 25171434 Detail
<0.001 Aortic Aneurysm, Thoracic We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome ... BeFree 25171434 Detail
0.483 Crigler Najjar syndrome, type 2 Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygo... BeFree 21319362 Detail
0.483 Crigler Najjar syndrome, type 2 UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT... BeFree 18004206 Detail
0.295 Gilbert Disease (disorder) UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT... BeFree 18004206 Detail
0.483 Crigler Najjar syndrome, type 2 Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP gly... BeFree 9630669 Detail
0.483 Crigler Najjar syndrome, type 2 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferas... UNIPROT 11013440 Detail
0.295 Gilbert Disease (disorder) Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferas... UNIPROT 11013440 Detail
0.049 Hyperbilirubinemia, Neonatal Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms:... BeFree 23014115 Detail
0.049 Hyperbilirubinemia, Neonatal In the present study, the UGT1A1 G71R allele was found to be one of the risk fac... BeFree 23964438 Detail
0.049 Hyperbilirubinemia, Neonatal The missense mutation causing G71R is the first reported polymorphism for UGT1A1... BeFree 10353933 Detail
0.004 Aortic Aneurysm, Thoracic Our results indicate that homozygosity and compound heterozygosity for mutations... BeFree 11906189 Detail
0.360 Lucey-Driscoll syndrome (disorder) Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferas... UNIPROT 11013440 Detail
0.014 neonatal jaundice Recently, it has been reported that a mutation of the UGT1A1 gene, glycine to ar... BeFree 15491385 Detail
0.014 neonatal jaundice Mutation of the UGT1A1 gene, glycine to arginine at codon 71 (G71R), is related ... BeFree 20528217 Detail
0.483 Crigler Najjar syndrome, type 2 The objective was to determine the frequencies of the following mutations in the... BeFree 16210851 Detail
0.223 Hyperbilirubinemia Screening for G71R mutation of the UDP-glucuronosyltransferase 1 (UGT1A1) gene i... BeFree 20650040 Detail
0.295 Gilbert Disease (disorder) The objective was to determine the frequencies of the following mutations in the... BeFree 16210851 Detail
0.001 SPHEROCYTOSIS, TYPE 1 (disorder) This is the first report of the concomitance of HS and GS with three heterozygou... BeFree 20924216 Detail
0.223 Hyperbilirubinemia The objective was to determine the frequencies of the following mutations in the... BeFree 16210851 Detail
0.049 Hyperbilirubinemia, Neonatal The UGT1A1 gene codon G71R allele is a risk factor for neonatal hyperbilirubinem... BeFree 17888052 Detail
0.049 Hyperbilirubinemia, Neonatal G71R mutation of UGT1A1 gene is also present in Turkish population and the prese... BeFree 20650040 Detail
0.223 Hyperbilirubinemia Our results suggest that G71R mutation of UGT1A1 is not rare; however, an associ... BeFree 20528217 Detail
0.223 Hyperbilirubinemia Several structural mutations of UGT1A1, for example, a G71R substitution, have b... BeFree 11013440 Detail
0.049 Hyperbilirubinemia, Neonatal Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is assoc... BeFree 12502904 Detail
0.004 hereditary spherocytosis This is the first report of the concomitance of HS and GS with three heterozygou... BeFree 20924216 Detail
Annotation

Annotations

DescrptionSourceLinks
UGT1A1*6 AND Gilbert syndrome ClinVar Detail
UGT1A1*6 AND Lucey-Driscoll syndrome ClinVar Detail
UGT1A1*6 AND Bilirubin, serum level of, quantitative trait locus 1 ClinVar Detail
UGT1A1*6 AND not specified ClinVar Detail
UGT1A1*6 AND Irinotecan response ClinVar Detail
UGT1A1*6 AND Crigler-Najjar syndrome, type II ClinVar Detail
UGT1A1*6 AND not provided ClinVar Detail
We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709,... DisGeNET Detail
We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709,... DisGeNET Detail
Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y48... DisGeNET Detail
UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and U... DisGeNET Detail
UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and U... DisGeNET Detail
Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UG... DisGeNET Detail
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing C... DisGeNET Detail
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing C... DisGeNET Detail
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G&gt;A (G71R) mu... DisGeNET Detail
In the present study, the UGT1A1 G71R allele was found to be one of the risk factors for neonatal hy... DisGeNET Detail
The missense mutation causing G71R is the first reported polymorphism for UGT1A1, and the mutation i... DisGeNET Detail
Our results indicate that homozygosity and compound heterozygosity for mutations in the UGT1A1 gene ... DisGeNET Detail
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing C... DisGeNET Detail
Recently, it has been reported that a mutation of the UGT1A1 gene, glycine to arginine at codon 71 (... DisGeNET Detail
Mutation of the UGT1A1 gene, glycine to arginine at codon 71 (G71R), is related to the development o... DisGeNET Detail
The objective was to determine the frequencies of the following mutations in the UGT1A1 gene: A(TA)7... DisGeNET Detail
Screening for G71R mutation of the UDP-glucuronosyltransferase 1 (UGT1A1) gene in neonates with path... DisGeNET Detail
The objective was to determine the frequencies of the following mutations in the UGT1A1 gene: A(TA)7... DisGeNET Detail
This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G... DisGeNET Detail
The objective was to determine the frequencies of the following mutations in the UGT1A1 gene: A(TA)7... DisGeNET Detail
The UGT1A1 gene codon G71R allele is a risk factor for neonatal hyperbilirubinemia in the Chinese po... DisGeNET Detail
G71R mutation of UGT1A1 gene is also present in Turkish population and the presence of this mutation... DisGeNET Detail
Our results suggest that G71R mutation of UGT1A1 is not rare; however, an association between G71R m... DisGeNET Detail
Several structural mutations of UGT1A1, for example, a G71R substitution, have been reported to caus... DisGeNET Detail
Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal ... DisGeNET Detail
This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4148323 dbSNP
Genome
hg38
Position
chr2:233,760,498-233,760,498
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
88.54
Standard deviation of sample read depth (HGVD)
37.76
Number of reference allele (HGVD)
1985
Number of alternative allele (HGVD)
433
Allele Frequency (HGVD)
0.17907361455748552
Gene Symbol (HGVD)
UGT1A1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs4148323
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1805
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3026
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
1317
East Asian Heterozygous Counts (ExAC)
1091
East Asian Homozygous Counts (ExAC)
113
East Asian Allele Frequency (ExAC)
0.1523952788706318
Chromosome Counts in All Race (ExAC)
121322
Allele Counts in All Race (ExAC)
2507
Heterozygous Counts in All Race (ExAC)
2239
Homozygous Counts in All Race (ExAC)
134
Allele Frequency in All Race (ExAC)
0.020664018067621703
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