chr10:101595996:T>A Detail (hg19) (ABCC2)

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

Genome

Assembly	Position
hg19	chr10:101,595,996-101,595,996
hg38	chr10:99,836,239-99,836,239 View the variant detail on this assembly version.

HGVS

ABCC2

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000647814.1:c.3563T>A	ENST00000647814.1:p.Val1188Glu

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	Benign Likely benign
Review star
Show details

Links

ABCC2

Type	Database	ID	Link
Gene	MIM	601107	OMIM
	HGNC	53	HGNC
	Ensembl	ENSG00000023839	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
Benign	2018-03-06	criteria provided, single submitter	Dubin-Johnson syndrome	germline	Detail
Benign	2024-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely benign	2021-07-21	criteria provided, single submitter	ABCC2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.126	Cholestasis of pregnancy	To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11:...	BeFree	18176959	Detail
0.002	Delayed renal graft function	[Multidrug resistance-related protein 2 genotype of the donor affects kidney gra...	GAD	19214140	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu) AND Dubin-Johnson syndrome	ClinVar	Detail
NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu) AND not provided	ClinVar	Detail
NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu) AND ABCC2-related disorder	ClinVar	Detail
To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11: 1331T>C --> V...	DisGeNET	Detail
[Multidrug resistance-related protein 2 genotype of the donor affects kidney graft function.]	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: rs17222723 dbSNP
Genome: hg19
Position: chr10:101,595,996-101,595,996
Variant Type: snv
Reference Allele: T
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 6
East Asian Heterozygous Counts (ExAC): 6
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 6.933210076265311E-4
Chromosome Counts in All Race (ExAC): 121394
Allele Counts in All Race (ExAC): 5221
Heterozygous Counts in All Race (ExAC): 4871
Homozygous Counts in All Race (ExAC): 175
Allele Frequency in All Race (ExAC): 0.043008715422508524

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