chr2:233772413:T>C Detail (hg38) (UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr2:234,681,059-234,681,059 View the variant detail on this assembly version.
hg38	chr2:233,772,413-233,772,413

HGVS

Type	Transcript	Protein
RefSeq	NM_000463.2:c.1456T>C	NP_000454.1:p.Tyr486His
Ensemble	ENST00000305208.10:c.1456T>C	ENST00000305208.10:p.Tyr486His

Type	Transcript	Protein
RefSeq	NM_019075.2:c.1447T>C	NP_061948.1:p.Tyr483His
Ensemble	ENST00000344644.10:c.1447T>C	ENST00000344644.10:p.Tyr483His

Type	Transcript	Protein
RefSeq	NM_019093.2:c.1459T>C	NP_061966.1:p.Tyr487His
Ensemble	ENST00000482026.6:c.1459T>C	ENST00000482026.6:p.Tyr487His

Type	Transcript	Protein
RefSeq	NM_007120.2:c.1459T>C	NP_009051.1:p.Tyr487His
Ensemble	ENST00000373409.8:c.1459T>C	ENST00000373409.8:p.Tyr487His

Type	Transcript	Protein
RefSeq	NM_019078.1:c.1459T>C	NP_061951.1:p.Tyr487His
Ensemble	ENST00000373414.4:c.1459T>C	ENST00000373414.4:p.Tyr487His

Type	Transcript	Protein
RefSeq	NM_001072.3:c.1453T>C	NP_001063.2:p.Tyr485His
	NM_205862.1:c.652T>C	NP_995584.1:p.Tyr218His
Ensemble	ENST00000305139.11:c.1453T>C	ENST00000305139.11:p.Tyr485His
	ENST00000373424.5:c.652T>C	ENST00000373424.5:p.Tyr218His

Type	Transcript	Protein
RefSeq	NM_019077.2:c.1447T>C	NP_061950.2:p.Tyr483His
Ensemble	ENST00000373426.4:c.1447T>C	ENST00000373426.4:p.Tyr483His

Type	Transcript	Protein
RefSeq	NM_019076.4:c.1447T>C	NP_061949.3:p.Tyr483His
Ensemble	ENST00000373450.5:c.1447T>C	ENST00000373450.5:p.Tyr483His

Type	Transcript	Protein
RefSeq	NM_021027.2:c.1447T>C	NP_066307.1:p.Tyr483His
Ensemble	ENST00000354728.5:c.1447T>C	ENST00000354728.5:p.Tyr483His

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
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
	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
	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
	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
	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
	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
	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
	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
	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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
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 UGT1A16 (G71R), UGT1A17 (Y486D), UGT...	BeFree	18004206	Detail
0.295	Gilbert Disease (disorder)	UGT1A1 coding region mutations, including UGT1A16 (G71R), UGT1A17 (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

Annotation

Annotations

Descrption	Source	Links
Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y48...	DisGeNET	Detail
UGT1A1 coding region mutations, including UGT1A16 (G71R), UGT1A17 (Y486D), UGT1A1*27 (P229Q) and U...	DisGeNET	Detail
UGT1A1 coding region mutations, including UGT1A16 (G71R), UGT1A17 (Y486D), UGT1A1*27 (P229Q) and U...	DisGeNET	Detail
Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UG...	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: hg38
Position: chr2:233,772,413-233,772,413
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1555350127108852E-4
Chromosome Counts in All Race (ExAC): 121404
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.236960890909689E-6

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