chr12:32994037:C>T 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	chr12:32,994,037-32,994,037
hg38	chr12:32,841,103-32,841,103 View the variant detail on this assembly version.

HGVS

PKP2

Type	Transcript	Protein
RefSeq	NM_004572.3:c.1613G>A	NP_004563.2:p.Trp538Ter
	NM_001005242.2:c.1481G>A	NP_001005242.2:p.Trp494Ter
Ensemble	ENST00000700559.2:c.1481G>A	ENST00000700559.2:p.Trp494Ter
	ENST00000700564.2:c.1481G>A	ENST00000700564.2:p.Trp494Ter
	ENST00000070846.11:c.1613G>A	ENST00000070846.11:p.Trp538Ter
	ENST00000700563.2:c.1481G>A	ENST00000700563.2:p.Trp494Ter
	ENST00000340811.9:c.1481G>A	ENST00000340811.9:p.Trp494Ter

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	Pathogenic
Review star
Show details

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
Pathogenic	2023-10-23	criteria provided, multiple submitters, no conflicts	arrhythmogenic right ventricular cardiomyopathy	germline	Detail
Pathogenic	2023-01-24	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-12-30	criteria provided, multiple submitters, no conflicts	arrhythmogenic right ventricular dysplasia 9	germline inherited unknown	Detail
Pathogenic	2024-01-09	criteria provided, single submitter		germline	Detail
Pathogenic	2023-12-18	criteria provided, single submitter	cardiomyopathy	germline	Detail
Pathogenic	2021-02-01	criteria provided, single submitter	Familial isolated arrhythmogenic right ventricular dysplasia	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) AND Arrhythmogenic right ventricular cardiomyopathy	ClinVar	Detail
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) AND not provided	ClinVar	Detail
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) AND Arrhythmogenic right ventricular dysplasia 9	ClinVar	Detail
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) AND Cardiovascular phenotype	ClinVar	Detail
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) AND Cardiomyopathy	ClinVar	Detail
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) AND Familial isolated arrhythmogenic right ventricular ...	ClinVar	Detail
NA	DisGeNET	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: rs193922672 dbSNP
Genome: hg19
Position: chr12:32,994,037-32,994,037
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8652
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): 121390
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6475821731608865E-5

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