chr2:233767858:C>T Detail (hg38) (UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3)

Information

Genome

Assembly Position
hg19 chr2:234,676,504-234,676,504 View the variant detail on this assembly version.
hg38 chr2:233,767,858-233,767,858

HGVS

Type Transcript Protein
RefSeq NM_000463.2:c.1006C>T NP_000454.1:p.Arg336Trp
Ensemble ENST00000360418.4:c.1006C>T ENST00000360418.4:p.Arg336Trp
ENST00000305208.10:c.1006C>T ENST00000305208.10:p.Arg336Trp
Type Transcript Protein
RefSeq NM_019075.2:c.997C>T NP_061948.1:p.Arg333Trp
Ensemble ENST00000344644.10:c.997C>T ENST00000344644.10:p.Arg333Trp
ENST00000373445.1:c.997C>T ENST00000373445.1:p.Arg333Trp
Type Transcript Protein
RefSeq NM_019093.2:c.1009C>T NP_061966.1:p.Arg337Trp
Ensemble ENST00000482026.6:c.1009C>T ENST00000482026.6:p.Arg337Trp
Type Transcript Protein
RefSeq NM_007120.2:c.1009C>T NP_009051.1:p.Arg337Trp
Ensemble ENST00000373409.8:c.1009C>T ENST00000373409.8:p.Arg337Trp
Type Transcript Protein
RefSeq NM_019078.1:c.1009C>T NP_061951.1:p.Arg337Trp
Ensemble ENST00000373414.4:c.1009C>T ENST00000373414.4:p.Arg337Trp
Type Transcript Protein
RefSeq NM_001072.3:c.1003C>T NP_001063.2:p.Arg335Trp
NM_205862.1:c.202C>T NP_995584.1:p.Arg68Trp
Ensemble ENST00000305139.11:c.1003C>T ENST00000305139.11:p.Arg335Trp
Type Transcript Protein
RefSeq NM_019077.2:c.997C>T NP_061950.2:p.Arg333Trp
Ensemble ENST00000373426.4:c.997C>T ENST00000373426.4:p.Arg333Trp
Type Transcript Protein
RefSeq NM_019076.4:c.997C>T NP_061949.3:p.Arg333Trp
Ensemble ENST00000373450.5:c.997C>T ENST00000373450.5:p.Arg333Trp
Type Transcript Protein
RefSeq NM_021027.2:c.997C>T NP_066307.1:p.Arg333Trp
Ensemble ENST00000354728.5:c.997C>T ENST00000354728.5:p.Arg333Trp
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 Pathogenic
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 tgv248710602 TogoVar
COSMIC COSM1018141 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 tgv248710602 TogoVar
COSMIC COSM1018141 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 tgv248710602 TogoVar
COSMIC COSM1018141 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 tgv248710602 TogoVar
COSMIC COSM1018141 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 tgv248710602 TogoVar
COSMIC COSM1018141 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 tgv248710602 TogoVar
COSMIC COSM1018141 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 tgv248710602 TogoVar
COSMIC COSM1018141 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 tgv248710602 TogoVar
COSMIC COSM1018141 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 tgv248710602 TogoVar
COSMIC COSM1018141 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-06-07 criteria provided, single submitter Crigler-Najjar syndrome inherited Detail
Pathogenic 2023-12-23 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp) AND Crigler-Najjar syndrome ClinVar Detail
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp) AND not provided ClinVar 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
rs139607673 dbSNP
Genome
hg38
Position
chr2:233,767,858-233,767,858
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121400
Allele Frequency in All Race (ExAC)
8.237232289950576E-6
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