chr12:32879021:G>A Detail (hg38) (PKP2)

Information

Genome

Assembly Position
hg19 chr12:33,031,955-33,031,955 View the variant detail on this assembly version.
hg38 chr12:32,879,021-32,879,021

HGVS

Type Transcript Protein
RefSeq NM_004572.3:c.235C>T NP_004563.2:p.Arg79Ter
NM_001005242.2:c.235C>T NP_001005242.2:p.Arg79Ter
Ensemble ENST00000070846.11:c.235C>T ENST00000070846.11:p.Arg79Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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 tgv377981120 TogoVar
COSMIC COSM468293 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts arrhythmogenic right ventricular dysplasia 9 germline paternal unknown Detail
Pathogenic 2022-08-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2019-02-13 criteria provided, single submitter arrhythmogenic right ventricular cardiomyopathy germline Detail
Pathogenic 2021-12-17 criteria provided, single submitter germline Detail
Pathogenic 2023-11-29 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Pathogenic 2018-02-28 criteria provided, single submitter Cardiac arrhythmia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.298 Cardiomyopathy, Dilated The presumed pathogenic mutations were distributed with one case of suspected HC... BeFree 22177269 Detail
0.262 Cardiomyopathy, Dilated The presumed pathogenic mutations were distributed with one case of suspected HC... BeFree 22177269 Detail
0.360 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) AND Arrhythmogenic right ventricular dysplasia 9 ClinVar Detail
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) AND not provided ClinVar Detail
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) AND Arrhythmogenic right ventricular cardiomyopathy ClinVar Detail
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) AND Cardiovascular phenotype ClinVar Detail
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) AND Cardiomyopathy ClinVar Detail
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) AND Cardiac arrhythmia ClinVar Detail
The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R... DisGeNET Detail
The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R... 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
rs121434420 dbSNP
Genome
hg38
Position
chr12:32,879,021-32,879,021
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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