chr2:234676504:C>T Detail (hg19) (UGT1A, 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	chr2:234,676,504-234,676,504
hg38	chr2:233,767,858-233,767,858 View the variant detail on this assembly version.

HGVS

Type	Transcript	Protein
RefSeq	NM_000463.2:c.1006C>T	NP_000454.1:p.Arg336Trp
Ensemble	ENST00000305208.10:c.1006C>T	ENST00000305208.10:p.Arg336Trp
	ENST00000360418.4:c.1006C>T	ENST00000360418.4: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_205862.1:c.202C>T	NP_995584.1:p.Arg68Trp
	NM_001072.3:c.1003C>T	NP_001063.2:p.Arg335Trp
Ensemble	ENST00000373424.5:c.202C>T	ENST00000373424.5:p.Arg68Trp
	ENST00000406651.1:c.202C>T	ENST00000406651.1:p.Arg68Trp
	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
	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
	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
	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
	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
	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
	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
	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
	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
	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

Descrption	Source	Links
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: hg19
Position: chr2:234,676,504-234,676,504
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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 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): 8.237232289950576E-6

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