chr12:32879001:CTCA> 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	chr12:33,031,935-33,031,938
hg38	chr12:32,879,001-32,879,004

HGVS

PKP2

Type	Transcript	Protein
RefSeq	NM_004572.3:c.252_255delTGAG	NP_004563.2:p.Glu85MetfsTer26
	NM_001005242.2:c.252_255delTGAG	NP_001005242.2:p.Glu85MetfsTer26
Ensemble	ENST00000070846.11:c.252_255delTGAG	ENST00000070846.11:p.Glu85MetfsTer26
	ENST00000340811.9:c.252_255delTGAG	ENST00000340811.9:p.Glu85MetfsTer26
	ENST00000700559.2:c.252_255delTGAG	ENST00000700559.2:p.Glu85MetfsTer26
	ENST00000700563.2:c.252_255delTGAG	ENST00000700563.2:p.Glu85MetfsTer26
	ENST00000700564.2:c.252_255delTGAG	ENST00000700564.2:p.Glu85MetfsTer26

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
Pathogenic	2022-08-22	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2018-02-09	criteria provided, single submitter	Sudden unexplained death	germline	Detail
Pathogenic	2023-12-13	criteria provided, multiple submitters, no conflicts	arrhythmogenic right ventricular dysplasia 9	germline	Detail
Pathogenic	2022-05-09	criteria provided, single submitter	cardiomyopathy	germline	Detail
Pathogenic	2019-09-19	criteria provided, single submitter		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.253_256del (p.Glu85fs) AND not provided	ClinVar	Detail
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) AND Sudden unexplained death	ClinVar	Detail
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) AND Arrhythmogenic right ventricular dysplasia 9	ClinVar	Detail
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) AND Cardiomyopathy	ClinVar	Detail
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) AND Cardiovascular phenotype	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: rs786204388 dbSNP
Genome: hg38
Position: chr12:32,879,001-32,879,004
Variant Type: snv
Reference Allele: CTCA
Alternative Allele: -

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