chr12:32802499:G>A Detail (hg38) (PKP2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr12:32,955,433-32,955,433 View the variant detail on this assembly version.
hg38	chr12:32,802,499-32,802,499

HGVS

PKP2

Type	Transcript	Protein
RefSeq	NM_004572.3:c.2203C>T	NP_004563.2:p.Arg735Ter
	NM_001005242.2:c.2071C>T	NP_001005242.2:p.Arg691Ter
Ensemble	ENST00000070846.11:c.2203C>T	ENST00000070846.11:p.Arg735Ter
	ENST00000340811.9:c.2071C>T	ENST00000340811.9:p.Arg691Ter
	ENST00000549461.3:c.214C>T	ENST00000549461.3:p.Arg72Ter
	ENST00000700558.2:c.214C>T	ENST00000700558.2:p.Arg72Ter
	ENST00000700559.2:c.2071C>T	ENST00000700559.2:p.Arg691Ter

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	2023-11-17	criteria provided, single submitter	arrhythmogenic right ventricular dysplasia 9	germline	Detail
Pathogenic	2023-12-09	criteria provided, multiple submitters, no conflicts	arrhythmogenic right ventricular cardiomyopathy	germline	Detail
Pathogenic	2022-10-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-04-04	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.163	Arrhythmogenic Right Ventricular Dysplasia	The introduction of the PKP2 R735X mutation into mice resulted in an exercise-de...	BeFree	25857910	Detail
0.360	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) AND Arrhythmogenic right ventricular dysplasia 9	ClinVar	Detail
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) AND Arrhythmogenic right ventricular cardiomyopathy	ClinVar	Detail
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) AND not provided	ClinVar	Detail
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) AND Cardiovascular phenotype	ClinVar	Detail
The introduction of the PKP2 R735X mutation into mice resulted in an exercise-dependent ARVC phenoty...	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: rs121434421 dbSNP
Genome: hg38
Position: chr12:32,802,499-32,802,499
Variant Type: snv
Reference Allele: G
Alternative Allele: A
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): 121404
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.236960890909689E-6

Genome browser