chr12:32896719:C> Detail (hg38) (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	chr12:33,049,653-33,049,653
hg38	chr12:32,896,719-32,896,719

HGVS

PKP2

Type	Transcript	Protein
RefSeq	NM_004572.3:c.13delG	NP_004563.2:p.Gly5AlafsTer34
	NM_001005242.2:c.13delG	NP_001005242.2:p.Gly5AlafsTer34
Ensemble	ENST00000070846.11:c.13delG	ENST00000070846.11:p.Gly5AlafsTer34
	ENST00000340811.9:c.13delG	ENST00000340811.9:p.Gly5AlafsTer34
	ENST00000546741.3:c.13delG	ENST00000546741.3:p.Gly5AlafsTer34
	ENST00000700559.2:c.13delG	ENST00000700559.2:p.Gly5AlafsTer34
	ENST00000700563.2:c.13delG	ENST00000700563.2:p.Gly5AlafsTer34
	ENST00000700564.2:c.13delG	ENST00000700564.2:p.Gly5AlafsTer34

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	2012-11-20	criteria provided, single submitter	arrhythmogenic right ventricular cardiomyopathy	germline	Detail
Pathogenic	2019-03-15	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2017-09-12	criteria provided, single submitter	Arrhythmogenic ventricular cardiomyopathy	germline	Detail
Pathogenic	2018-10-05	criteria provided, single submitter	Cardiac arrhythmia	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.14del (p.Gly5fs) AND Arrhythmogenic right ventricular cardiomyopathy	ClinVar	Detail
NM_001005242.3(PKP2):c.14del (p.Gly5fs) AND not provided	ClinVar	Detail
NM_001005242.3(PKP2):c.14del (p.Gly5fs) AND Arrhythmogenic ventricular cardiomyopathy	ClinVar	Detail
NM_001005242.3(PKP2):c.14del (p.Gly5fs) AND Cardiac arrhythmia	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: rs397516996 dbSNP
Genome: hg38
Position: chr12:32,896,719-32,896,719
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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