chr12:32896584:TCTG> Detail (hg38) (PKP2)

Information

Genome

Assembly Position
hg19 chr12:33,049,518-33,049,521 
hg38 chr12:32,896,584-32,896,587

HGVS

Type Transcript Protein
RefSeq NM_001005242.2:c.145_148delCAGA NP_001005242.2:p.Thr50SerfsTer61
NM_004572.3:c.145_148delCAGA NP_004563.2:p.Thr50SerfsTer61
Ensemble ENST00000340811.9:c.145_148delCAGA ENST00000340811.9:p.Thr50SerfsTer61
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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 tgv45462946 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-05 criteria provided, multiple submitters, no conflicts arrhythmogenic right ventricular cardiomyopathy germline Detail
Pathogenic 2022-01-17 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-03-29 criteria provided, multiple submitters, no conflicts arrhythmogenic right ventricular dysplasia 9 germline unknown Detail
Pathogenic 2023-06-29 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Pathogenic 2021-02-22 criteria provided, single submitter Familial isolated arrhythmogenic right ventricular dysplasia germline Detail
Pathogenic 2024-02-20 criteria provided, single submitter 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.148_151del (p.Thr50fs) AND Arrhythmogenic right ventricular cardiomyopathy ClinVar Detail
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) AND not provided ClinVar Detail
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) AND Arrhythmogenic right ventricular dysplasia 9 ClinVar Detail
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) AND Cardiomyopathy ClinVar Detail
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) AND Familial isolated arrhythmogenic right ventricular... ClinVar Detail
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) AND Cardiovascular phenotype ClinVar Detail
NA 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
rs397516997 dbSNP
Genome
hg38
Position
chr12:32,896,584-32,896,587
Variant Type
snv
Reference Allele
TCTG
Alternative Allele
-
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheINDEL99.00to99.90
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs397516997
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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