chr2:233768234:C>T Detail (hg38) (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	chr2:234,676,880-234,676,880 View the variant detail on this assembly version.
hg38	chr2:233,768,234-233,768,234

HGVS

Type	Transcript	Protein
RefSeq	NM_000463.2:c.1099C>T	NP_000454.1:p.Arg367Cys
Ensemble	ENST00000305208.10:c.1099C>T	ENST00000305208.10:p.Arg367Cys
	ENST00000360418.4:c.1099C>T	ENST00000360418.4:p.Arg367Cys

Type	Transcript	Protein
RefSeq	NM_019075.2:c.1090C>T	NP_061948.1:p.Arg364Cys
Ensemble	ENST00000344644.10:c.1090C>T	ENST00000344644.10:p.Arg364Cys
	ENST00000373445.1:c.1090C>T	ENST00000373445.1:p.Arg364Cys

Type	Transcript	Protein
RefSeq	NM_019093.2:c.1102C>T	NP_061966.1:p.Arg368Cys
Ensemble	ENST00000482026.6:c.1102C>T	ENST00000482026.6:p.Arg368Cys

Type	Transcript	Protein
RefSeq	NM_007120.2:c.1102C>T	NP_009051.1:p.Arg368Cys
Ensemble	ENST00000373409.8:c.1102C>T	ENST00000373409.8:p.Arg368Cys

Type	Transcript	Protein
RefSeq	NM_019078.1:c.1102C>T	NP_061951.1:p.Arg368Cys
Ensemble	ENST00000373414.4:c.1102C>T	ENST00000373414.4:p.Arg368Cys

Type	Transcript	Protein
RefSeq	NM_001072.3:c.1096C>T	NP_001063.2:p.Arg366Cys
	NM_205862.1:c.295C>T	NP_995584.1:p.Arg99Cys
Ensemble	ENST00000305139.11:c.1096C>T	ENST00000305139.11:p.Arg366Cys
	ENST00000373424.5:c.295C>T	ENST00000373424.5:p.Arg99Cys
	ENST00000406651.1:c.295C>T	ENST00000406651.1:p.Arg99Cys

Type	Transcript	Protein
RefSeq	NM_019077.2:c.1090C>T	NP_061950.2:p.Arg364Cys
Ensemble	ENST00000373426.4:c.1090C>T	ENST00000373426.4:p.Arg364Cys

Type	Transcript	Protein
RefSeq	NM_019076.4:c.1090C>T	NP_061949.3:p.Arg364Cys
Ensemble	ENST00000373450.5:c.1090C>T	ENST00000373450.5:p.Arg364Cys

Type	Transcript	Protein
RefSeq	NM_021027.2:c.1090C>T	NP_066307.1:p.Arg364Cys
Ensemble	ENST00000354728.5:c.1090C>T	ENST00000354728.5:p.Arg364Cys

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	Uncertain significance
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	tgv10921178	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	tgv10921178	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	tgv10921178	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	tgv10921178	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	tgv10921178	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	tgv10921178	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	tgv10921178	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	tgv10921178	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	tgv10921178	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2021-12-03	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2022-04-20	criteria provided, single submitter	Bilirubin, serum level of, quantitative trait locus 1,Lucey-Driscoll syndrome,Crigler-Najjar syndrome type 1,Gilbert syndrome,Crigler-Najjar syndrome, type II	unknown	Detail
Uncertain significance	2022-04-20	criteria provided, single submitter	Bilirubin, serum level of, quantitative trait locus 1,Lucey-Driscoll syndrome,Crigler-Najjar syndrome type 1,Gilbert syndrome,Crigler-Najjar syndrome, type II	unknown	Detail
Uncertain significance	2022-04-20	criteria provided, single submitter	Bilirubin, serum level of, quantitative trait locus 1,Lucey-Driscoll syndrome,Crigler-Najjar syndrome type 1,Gilbert syndrome,Crigler-Najjar syndrome, type II	unknown	Detail
Uncertain significance	2022-04-20	criteria provided, single submitter	Bilirubin, serum level of, quantitative trait locus 1,Lucey-Driscoll syndrome,Crigler-Najjar syndrome type 1,Gilbert syndrome,Crigler-Najjar syndrome, type II	unknown	Detail
Uncertain significance	2022-04-20	criteria provided, single submitter	Bilirubin, serum level of, quantitative trait locus 1,Lucey-Driscoll syndrome,Crigler-Najjar syndrome type 1,Gilbert syndrome,Crigler-Najjar syndrome, type II	unknown	Detail
Uncertain significance	2023-01-16	criteria provided, single submitter	UGT1A1-related disorder	germline	Detail

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

Descrption	Source	Links
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND not provided	ClinVar	Detail
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND multiple conditions	ClinVar	Detail
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND multiple conditions	ClinVar	Detail
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND multiple conditions	ClinVar	Detail
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND multiple conditions	ClinVar	Detail
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND multiple conditions	ClinVar	Detail
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) AND UGT1A1-related disorder	ClinVar	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: rs55750087 dbSNP
Genome: hg38
Position: chr2:233,768,234-233,768,234
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
Chromosome Counts in All Race (ExAC): 121406
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4710475594286937E-5

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