chr7:87056176:T>G Detail (hg19) (ABCB4)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr7:87,056,176-87,056,176
hg38	chr7:87,426,860-87,426,860 View the variant detail on this assembly version.

HGVS

ABCB4

Type	Transcript	Protein
RefSeq	NM_018849.2:c.1954A>C	NP_061337.1:p.Arg652=
	NM_000443.3:c.1954A>C	NP_000434.1:p.Arg652=
Ensemble	ENST00000265723.8:c.1954A>C	ENST00000265723.8:p.Arg652=
	ENST00000359206.8:c.1954A>C	ENST00000359206.8:p.Arg652=
	ENST00000453593.5:c.1954A>C	ENST00000453593.5:p.Arg652=
	ENST00000649586.2:c.1954A>C	ENST00000649586.2:p.Arg652=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.018	cholelithiasis	In our study we investigated the contribution of heterozygosity for common varia...	BeFree	20163776	Detail
0.006	cholelithiasis	In our study we investigated the contribution of heterozygosity for common varia...	BeFree	20163776	Detail
0.149	cholelithiasis	In our study we investigated the contribution of heterozygosity for common varia...	BeFree	20163776	Detail
<0.001	Cholesterol gallstones	In our study we investigated the contribution of heterozygosity for common varia...	BeFree	20163776	Detail
0.002	Cholesterol gallstones	In our study we investigated the contribution of heterozygosity for common varia...	BeFree	20163776	Detail
0.002	Cholesterol gallstones	In our study we investigated the contribution of heterozygosity for common varia...	BeFree	20163776	Detail
0.094	cholestasis	Multidrug resistance protein 3 R652G may reduce susceptibility to idiopathic inf...	BeFree	19998509	Detail

Annotation

Annotations

Descrption	Source	Links
In our study we investigated the contribution of heterozygosity for common variations considered eit...	DisGeNET	Detail
In our study we investigated the contribution of heterozygosity for common variations considered eit...	DisGeNET	Detail
In our study we investigated the contribution of heterozygosity for common variations considered eit...	DisGeNET	Detail
In our study we investigated the contribution of heterozygosity for common variations considered eit...	DisGeNET	Detail
In our study we investigated the contribution of heterozygosity for common variations considered eit...	DisGeNET	Detail
In our study we investigated the contribution of heterozygosity for common variations considered eit...	DisGeNET	Detail
Multidrug resistance protein 3 R652G may reduce susceptibility to idiopathic infant cholestasis.	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: rs2230028 dbSNP
Genome: hg19
Position: chr7:87,056,176-87,056,176
Variant Type: snv
Reference Allele: T
Alternative Allele: G

Genome browser