chr12:32802557:C>G Detail (hg38) (PKP2)

Information

Genome

Assembly Position
hg19 chr12:32,955,491-32,955,491 View the variant detail on this assembly version.
hg38 chr12:32,802,557-32,802,557

HGVS

Type Transcript Protein
RefSeq NM_004572.3:c.2146-1G>C
NM_001005242.2:c.2014-1G>C
Ensemble ENST00000070846.11:c.2146-1G>C
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
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 2024-01-20 criteria provided, multiple submitters, no conflicts arrhythmogenic right ventricular dysplasia 9 germline paternal unknown Detail
Pathogenic 2024-01-08 criteria provided, multiple submitters, no conflicts arrhythmogenic right ventricular cardiomyopathy germline Detail
Pathogenic 2023-08-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-12 criteria provided, single submitter germline Detail
Pathogenic 2023-02-27 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Pathogenic 2024-01-25 criteria provided, single submitter PKP2-related disorder germline 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.2014-1G>C AND Arrhythmogenic right ventricular dysplasia 9 ClinVar Detail
NM_001005242.3(PKP2):c.2014-1G>C AND Arrhythmogenic right ventricular cardiomyopathy ClinVar Detail
NM_001005242.3(PKP2):c.2014-1G>C AND not provided ClinVar Detail
NM_001005242.3(PKP2):c.2014-1G>C AND Cardiovascular phenotype ClinVar Detail
NM_001005242.3(PKP2):c.2014-1G>C AND Cardiomyopathy ClinVar Detail
NM_001005242.3(PKP2):c.2014-1G>C AND PKP2-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs193922674 dbSNP
Genome
hg38
Position
chr12:32,802,557-32,802,557
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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)
121354
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.9442127989188657E-5
Genome browser