chr2:233768234:C>T Detail (hg38) (UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3)

Information

Genome

Assembly Position
hg19 chr2:234,676,880-234,676,880 View the variant detail on this assembly version.
hg38 chr2:233,768,234-233,768,234

HGVS

Type Transcript Protein
RefSeq NM_000463.2:c.1099C>T NP_000454.1:p.Arg367Cys
Ensemble ENST00000305208.10:c.1099C>T ENST00000305208.10:p.Arg367Cys
ENST00000360418.4:c.1099C>T ENST00000360418.4:p.Arg367Cys
Type Transcript Protein
RefSeq NM_019075.2:c.1090C>T NP_061948.1:p.Arg364Cys
Ensemble ENST00000344644.10:c.1090C>T ENST00000344644.10:p.Arg364Cys
ENST00000373445.1:c.1090C>T ENST00000373445.1:p.Arg364Cys
Type Transcript Protein
RefSeq NM_019093.2:c.1102C>T NP_061966.1:p.Arg368Cys
Ensemble ENST00000482026.6:c.1102C>T ENST00000482026.6:p.Arg368Cys
Type Transcript Protein
RefSeq NM_007120.2:c.1102C>T NP_009051.1:p.Arg368Cys
Ensemble ENST00000373409.8:c.1102C>T ENST00000373409.8:p.Arg368Cys
Type Transcript Protein
RefSeq NM_019078.1:c.1102C>T NP_061951.1:p.Arg368Cys
Ensemble ENST00000373414.4:c.1102C>T ENST00000373414.4:p.Arg368Cys
Type Transcript Protein
RefSeq NM_001072.3:c.1096C>T NP_001063.2:p.Arg366Cys
NM_205862.1:c.295C>T NP_995584.1:p.Arg99Cys
Ensemble ENST00000305139.11:c.1096C>T ENST00000305139.11:p.Arg366Cys
Type Transcript Protein
RefSeq NM_019077.2:c.1090C>T NP_061950.2:p.Arg364Cys
Ensemble ENST00000373426.4:c.1090C>T ENST00000373426.4:p.Arg364Cys
Type Transcript Protein
RefSeq NM_019076.4:c.1090C>T NP_061949.3:p.Arg364Cys
Ensemble ENST00000373450.5:c.1090C>T ENST00000373450.5:p.Arg364Cys
Type Transcript Protein
RefSeq NM_021027.2:c.1090C>T NP_066307.1:p.Arg364Cys
Ensemble ENST00000354728.5:c.1090C>T ENST00000354728.5:p.Arg364Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
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 tgv10921178 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 tgv10921178 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 tgv10921178 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 tgv10921178 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 tgv10921178 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 tgv10921178 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 tgv10921178 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 tgv10921178 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 tgv10921178 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2021-12-03 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2022-04-20 criteria provided, single submitter Bilirubin, serum level of, quantitative trait locus 1,Lucey-Driscoll syndrome,Crigler-Najjar syndrome type 1,Gilbert syndrome,Crigler-Najjar syndrome, type II unknown Detail
Uncertain significance 2022-04-20 criteria provided, single submitter Bilirubin, serum level of, quantitative trait locus 1,Lucey-Driscoll syndrome,Crigler-Najjar syndrome type 1,Gilbert syndrome,Crigler-Najjar syndrome, type II unknown Detail
Uncertain significance 2022-04-20 criteria provided, single submitter Bilirubin, serum level of, quantitative trait locus 1,Lucey-Driscoll syndrome,Crigler-Najjar syndrome type 1,Gilbert syndrome,Crigler-Najjar syndrome, type II unknown Detail
Uncertain significance 2022-04-20 criteria provided, single submitter Bilirubin, serum level of, quantitative trait locus 1,Lucey-Driscoll syndrome,Crigler-Najjar syndrome type 1,Gilbert syndrome,Crigler-Najjar syndrome, type II unknown Detail
Uncertain significance 2022-04-20 criteria provided, single submitter Bilirubin, serum level of, quantitative trait locus 1,Lucey-Driscoll syndrome,Crigler-Najjar syndrome type 1,Gilbert syndrome,Crigler-Najjar syndrome, type II unknown Detail
Uncertain significance 2023-01-16 criteria provided, single submitter UGT1A1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.295 Gilbert Disease (disorder) Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferas... UNIPROT 11013440 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND not provided ClinVar Detail
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND multiple conditions ClinVar Detail
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND multiple conditions ClinVar Detail
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND multiple conditions ClinVar Detail
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND multiple conditions ClinVar Detail
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND multiple conditions ClinVar Detail
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND UGT1A1-related disorder ClinVar Detail
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing C... 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
rs55750087 dbSNP
Genome
hg38
Position
chr2:233,768,234-233,768,234
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
121406
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4710475594286937E-5
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