chr2:234669619: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	chr2:234,669,619-234,669,619
hg38	chr2:233,760,973-233,760,973 View the variant detail on this assembly version.

HGVS

Type	Transcript	Protein
RefSeq	NM_000463.2:c.686C>T	NP_000454.1:p.Pro229Leu
Ensemble	ENST00000305208.10:c.686C>T	ENST00000305208.10:p.Pro229Leu
	ENST00000360418.4:c.686C>T	ENST00000360418.4:p.Pro229Leu

Type	Transcript	Protein
RefSeq	NM_019075.2:c.856-6061C>T
Ensemble	ENST00000344644.10:c.856-6061C>T
	ENST00000373445.1:c.856-6061C>T

Type	Transcript	Protein
RefSeq	NM_019093.2:c.868-6061C>T
Ensemble	ENST00000482026.6:c.868-6061C>T

Type	Transcript	Protein
RefSeq	NM_007120.2:c.868-6061C>T
Ensemble	ENST00000373409.8:c.868-6061C>T

Type	Transcript	Protein
RefSeq	NM_019078.1:c.868-6061C>T
Ensemble	ENST00000373414.4:c.868-6061C>T

Type	Transcript	Protein
RefSeq	NM_001072.3:c.862-6061C>T
	NM_205862.1:c.61-6061C>T
Ensemble	ENST00000305139.11:c.862-6061C>T
	ENST00000373424.5:c.61-6061C>T
	ENST00000406651.1:c.61-6061C>T

Type	Transcript	Protein
RefSeq	NM_019077.2:c.856-6061C>T
Ensemble	ENST00000373426.4:c.856-6061C>T

Type	Transcript	Protein
RefSeq	NM_019076.4:c.856-6061C>T
Ensemble	ENST00000373450.5:c.856-6061C>T

Type	Transcript	Protein
RefSeq	NM_021027.2:c.856-6061C>T
Ensemble	ENST00000354728.5:c.856-6061C>T

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	Conflicting classifications of pathogenicity
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
	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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-08-17	criteria provided, conflicting interpretations	not provided	germline	Detail
Uncertain significance	2022-04-01	criteria provided, single submitter	Gilbert syndrome,Lucey-Driscoll syndrome,Crigler-Najjar syndrome, type II,Bilirubin, serum level of, quantitative trait locus 1,Crigler-Najjar syndrome type 1	unknown	Detail
Uncertain significance	2022-04-01	criteria provided, single submitter	Gilbert syndrome,Lucey-Driscoll syndrome,Crigler-Najjar syndrome, type II,Bilirubin, serum level of, quantitative trait locus 1,Crigler-Najjar syndrome type 1	unknown	Detail
Uncertain significance	2022-04-01	criteria provided, single submitter	Gilbert syndrome,Lucey-Driscoll syndrome,Crigler-Najjar syndrome, type II,Bilirubin, serum level of, quantitative trait locus 1,Crigler-Najjar syndrome type 1	unknown	Detail
Uncertain significance	2022-04-01	criteria provided, single submitter	Gilbert syndrome,Lucey-Driscoll syndrome,Crigler-Najjar syndrome, type II,Bilirubin, serum level of, quantitative trait locus 1,Crigler-Najjar syndrome type 1	unknown	Detail
Uncertain significance	2022-04-01	criteria provided, single submitter	Gilbert syndrome,Lucey-Driscoll syndrome,Crigler-Najjar syndrome, type II,Bilirubin, serum level of, quantitative trait locus 1,Crigler-Najjar syndrome type 1	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
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	Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferas...	UNIPROT	11013440	Detail
0.295	Gilbert Disease (disorder)	Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferas...	UNIPROT	11013440	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) AND not provided	ClinVar	Detail
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) AND multiple conditions	ClinVar	Detail
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) AND multiple conditions	ClinVar	Detail
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) AND multiple conditions	ClinVar	Detail
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) AND multiple conditions	ClinVar	Detail
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) AND multiple conditions	ClinVar	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
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing C...	DisGeNET	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: rs35350960 dbSNP
Genome: hg19
Position: chr2:234,669,619-234,669,619
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): 121412
Allele Counts in All Race (ExAC): 6
Heterozygous Counts in All Race (ExAC): 6
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.941850887885876E-5

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