chr12:32949042:C>A Detail (hg19) (PKP2)

Information

Genome

Assembly Position
hg19 chr12:32,949,042-32,949,042
hg38 chr12:32,796,108-32,796,108 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001005242.2:c.2357+1G>T
NM_004572.3:c.2489+1G>T
Ensemble ENST00000340811.9:c.2357+1G>T
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
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2009-10-07 no assertion criteria provided arrhythmogenic right ventricular cardiomyopathy germline Detail
Pathogenic 2018-04-05 criteria provided, single submitter not provided germline Detail
Pathogenic Likely pathogenic 2023-12-25 criteria provided, multiple submitters, no conflicts arrhythmogenic right ventricular dysplasia 9 germline unknown 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

DescrptionSourceLinks
NM_001005242.3(PKP2):c.2357+1G>T AND Arrhythmogenic right ventricular cardiomyopathy ClinVar Detail
NM_001005242.3(PKP2):c.2357+1G>T AND not provided ClinVar Detail
NM_001005242.3(PKP2):c.2357+1G>T AND Arrhythmogenic right ventricular dysplasia 9 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs111517471 dbSNP
Genome
hg19
Position
chr12:32,949,042-32,949,042
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser