chr2:234676880:C>G Detail (hg19) (UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_000463.2:c.1099C>G NP_000454.1:p.Arg367Gly
Ensemble ENST00000305208.10:c.1099C>G ENST00000305208.10:p.Arg367Gly
ENST00000360418.4:c.1099C>G ENST00000360418.4:p.Arg367Gly
Type Transcript Protein
RefSeq NM_019075.2:c.1090C>G NP_061948.1:p.Arg364Gly
Ensemble ENST00000344644.10:c.1090C>G ENST00000344644.10:p.Arg364Gly
ENST00000373445.1:c.1090C>G ENST00000373445.1:p.Arg364Gly
Type Transcript Protein
RefSeq NM_019093.2:c.1102C>G NP_061966.1:p.Arg368Gly
Ensemble ENST00000482026.6:c.1102C>G ENST00000482026.6:p.Arg368Gly
Type Transcript Protein
RefSeq NM_007120.2:c.1102C>G NP_009051.1:p.Arg368Gly
Ensemble ENST00000373409.8:c.1102C>G ENST00000373409.8:p.Arg368Gly
Type Transcript Protein
RefSeq NM_019078.1:c.1102C>G NP_061951.1:p.Arg368Gly
Ensemble ENST00000373414.4:c.1102C>G ENST00000373414.4:p.Arg368Gly
Type Transcript Protein
RefSeq NM_001072.3:c.1096C>G NP_001063.2:p.Arg366Gly
NM_205862.1:c.295C>G NP_995584.1:p.Arg99Gly
Ensemble ENST00000406651.1:c.295C>G ENST00000406651.1:p.Arg99Gly
Type Transcript Protein
RefSeq NM_019077.2:c.1090C>G NP_061950.2:p.Arg364Gly
Ensemble ENST00000373426.4:c.1090C>G ENST00000373426.4:p.Arg364Gly
Type Transcript Protein
RefSeq NM_019076.4:c.1090C>G NP_061949.3:p.Arg364Gly
Ensemble ENST00000373450.5:c.1090C>G ENST00000373450.5:p.Arg364Gly
Type Transcript Protein
RefSeq NM_021027.2:c.1090C>G NP_066307.1:p.Arg364Gly
Ensemble ENST00000354728.5:c.1090C>G ENST00000354728.5:p.Arg364Gly
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv10921177 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 tgv10921177 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 tgv10921177 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 tgv10921177 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 tgv10921177 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 tgv10921177 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 tgv10921177 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 tgv10921177 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 tgv10921177 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
ClinVar
[No Data.]
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
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
-
Genome
hg19
Position
chr2:234,676,880-234,676,880
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
157.48
Standard deviation of sample read depth (HGVD)
69.38
Number of reference allele (HGVD)
2418
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.264462809917355E-4
Gene Symbol (HGVD)
UGT1A1
Genome browser