chr7:87069077:G>T Detail (hg19) (ABCB4)

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

Genome

Assembly	Position
hg19	chr7:87,069,077-87,069,077
hg38	chr7:87,439,761-87,439,761 View the variant detail on this assembly version.

HGVS

ABCB4

Type	Transcript	Protein
RefSeq	NM_018849.2:c.1637C>A	NP_061337.1:p.Ala546Asp
	NM_000443.3:c.1637C>A	NP_000434.1:p.Ala546Asp
Ensemble	ENST00000265723.8:c.1637C>A	ENST00000265723.8:p.Ala546Asp
	ENST00000359206.8:c.1637C>A	ENST00000359206.8:p.Ala546Asp
	ENST00000453593.5:c.1637C>A	ENST00000453593.5:p.Ala546Asp
	ENST00000649586.2:c.1637C>A	ENST00000649586.2:p.Ala546Asp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

ABCB4

Type	Database	ID	Link
Gene	MIM	171060	OMIM
	HGNC	45	HGNC
	Ensembl	ENSG00000005471	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM6312070	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2000-05-01	no assertion criteria provided	Cholestasis, intrahepatic, of pregnancy, 3	germline	Detail
Uncertain significance	2018-07-30	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2022-12-20	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2023-12-13	criteria provided, single submitter	ABCB4-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) AND Cholestasis, intrahepatic, of pregnancy, 3	ClinVar	Detail
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) AND not provided	ClinVar	Detail
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) AND not specified	ClinVar	Detail
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) AND ABCB4-related disorder	ClinVar	Detail
NA	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: rs121918441 dbSNP
Genome: hg19
Position: chr7:87,069,077-87,069,077
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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