chr7:87406293:G>A Detail (hg38) (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	chr7:87,035,609-87,035,609 View the variant detail on this assembly version.
hg38	chr7:87,406,293-87,406,293

HGVS

ABCB4

Type	Transcript	Protein
RefSeq	NM_018849.2:c.3502C>T	NP_061337.1:p.Pro1168Ser
	NM_000443.3:c.3481C>T	NP_000434.1:p.Pro1161Ser
Ensemble	ENST00000265723.8:c.3502C>T	ENST00000265723.8:p.Pro1168Ser
	ENST00000359206.8:c.3481C>T	ENST00000359206.8:p.Pro1161Ser
	ENST00000453593.5:c.3340C>T	ENST00000453593.5:p.Pro1114Ser
	ENST00000649586.2:c.3481C>T	ENST00000649586.2:p.Pro1161Ser

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
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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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2001-05-01	no assertion criteria provided	Low phospholipid associated cholelithiasis	germline	Detail
Conflicting interpretations of pathogenicity	2022-10-17	criteria provided, conflicting interpretations	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	cholecystitis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) AND Low phospholipid associated cholelithiasis	ClinVar	Detail
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) AND not provided	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: rs121918442 dbSNP
Genome: hg38
Position: chr7:87,406,293-87,406,293
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8644
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): 121390
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.295164346321773E-5

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