chr7:87536484:C>T Detail (hg38) (ABCB1)

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

Genome

Assembly	Position
hg19	chr7:87,165,800-87,165,800 View the variant detail on this assembly version.
hg38	chr7:87,536,484-87,536,484

HGVS

ABCB1

Type	Transcript	Protein
RefSeq	NM_000927.4:c.2455G>A	NP_000918.2:p.Ala819Thr
Ensemble	ENST00000265724.8:c.2455G>A	ENST00000265724.8:p.Ala819Thr
	ENST00000543898.5:c.2263G>A	ENST00000543898.5:p.Ala755Thr
	ENST00000622132.5:c.2455G>A	ENST00000622132.5:p.Ala819Thr

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
Review star	[No Data.]
Show details

Links

ABCB1

Type	Database	ID	Link
Gene	MIM	171050	OMIM
	HGNC	40	HGNC
	Ensembl	ENSG00000085563	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv350599196	TogoVar
	COSMIC	COSM1452580	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Sickle Cell Dactylitis	The risk for mucosal inflammation was increased in the presence of the G allele ...	BeFree	19667267	Detail
<0.001	Palmar-plantar erythrodysesthesia syndrome	The risk for mucosal inflammation was increased in the presence of the G allele ...	BeFree	19667267	Detail
<0.001	Sickle Cell Dactylitis	The risk for mucosal inflammation was increased in the presence of the G allele ...	BeFree	19667267	Detail
<0.001	Palmar-plantar erythrodysesthesia syndrome	The risk for mucosal inflammation was increased in the presence of the G allele ...	BeFree	19667267	Detail

Annotation

Annotations

Descrption	Source	Links
The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O...	DisGeNET	Detail
The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O...	DisGeNET	Detail
The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O...	DisGeNET	Detail
The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O...	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: -
Genome: hg38
Position: chr7:87,536,484-87,536,484
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8642
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): 121220
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): 2.4748391354561955E-5

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