chr12:32975460:G>A 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	chr12:32,975,460-32,975,460
hg38	chr12:32,822,526-32,822,526 View the variant detail on this assembly version.

HGVS

PKP2

Type	Transcript	Protein
RefSeq	NM_004572.3:c.1912C>T	NP_004563.2:p.Gln638Ter
	NM_001005242.2:c.1780C>T	NP_001005242.2:p.Gln594Ter
Ensemble	ENST00000700559.2:c.1780C>T	ENST00000700559.2:p.Gln594Ter
	ENST00000700564.2:c.1780C>T	ENST00000700564.2:p.Gln594Ter
	ENST00000070846.11:c.1912C>T	ENST00000070846.11:p.Gln638Ter
	ENST00000700563.2:c.1780C>T	ENST00000700563.2:p.Gln594Ter
	ENST00000340811.9:c.1780C>T	ENST00000340811.9:p.Gln594Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Pathogenic	2023-09-15	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-10-02	criteria provided, multiple submitters, no conflicts	arrhythmogenic right ventricular cardiomyopathy	germline	Detail
Pathogenic	2024-01-19	criteria provided, multiple submitters, no conflicts	arrhythmogenic right ventricular dysplasia 9	germline unknown	Detail
Pathogenic	2020-03-30	criteria provided, single submitter	Familial isolated arrhythmogenic right ventricular dysplasia	germline	Detail
Pathogenic	2023-08-10	criteria provided, multiple submitters, no conflicts	cardiomyopathy	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.1780C>T (p.Gln594Ter) AND not provided	ClinVar	Detail
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) AND Arrhythmogenic right ventricular cardiomyopathy	ClinVar	Detail
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) AND Arrhythmogenic right ventricular dysplasia 9	ClinVar	Detail
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) AND Familial isolated arrhythmogenic right ventricular ...	ClinVar	Detail
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) AND Cardiomyopathy	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: rs397517012 dbSNP
Genome: hg19
Position: chr12:32,975,460-32,975,460
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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