chr12:32949194:CAGGA>ACTG Detail (hg19) (PKP2)

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

Genome

Assembly	Position
hg19	chr12:32,949,194-32,949,198
hg38	chr12:32,796,260-32,796,264 View the variant detail on this assembly version.

HGVS

PKP2

Type	Transcript	Protein
RefSeq	NM_004572.3:c.2334_2338delinsCAGT	NP_004563.2:p.Pro779SerfsTer21
	NM_001005242.2:c.2202_2206delinsCAGT	NP_001005242.2:p.Pro735SerfsTer21
Ensemble	ENST00000700559.2:c.2168-3533_2168-3529delinsCAGT
	ENST00000700558.2:c.345_349delinsCAGT	ENST00000700558.2:p.Pro116SerfsTer21
	ENST00000070846.11:c.2334_2338delinsCAGT	ENST00000070846.11:p.Pro779SerfsTer21
	ENST00000549461.3:c.345_349delinsCAGT	ENST00000549461.3:p.Pro116SerfsTer21
	ENST00000340811.9:c.2202_2206delinsCAGT	ENST00000340811.9:p.Pro735SerfsTer21

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

PKP2

Type	Database	ID	Link
Gene	MIM	602861	OMIM
	HGNC	9024	HGNC
	Ensembl	ENSG00000057294	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
Likely pathogenic	2017-04-07	criteria provided, single submitter	arrhythmogenic right ventricular cardiomyopathy	germline	Detail
Pathogenic	2019-11-11	criteria provided, single submitter	arrhythmogenic right ventricular dysplasia 9	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) AND Arrhythmogenic right ventricular cardiom...	ClinVar	Detail
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) AND Arrhythmogenic right ventricular dysplas...	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: rs397517022 dbSNP
Genome: hg19
Position: chr12:32,949,194-32,949,198
Variant Type: snv
Reference Allele: CAGGA
Alternative Allele: ACTG

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