chr12:33003763:CCCCATTTA>AACTAAAT Detail (hg19) (PKP2)

Information

Genome

Assembly Position
hg19 chr12:33,003,763-33,003,771
hg38 chr12:32,850,829-32,850,837 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004572.3:c.1307_1315delinsATTTAGTT NP_004563.2:p.Leu436HisfsTer11
NM_001005242.2:c.1307_1315delinsATTTAGTT NP_001005242.2:p.Leu436HisfsTer11
Ensemble ENST00000070846.11:c.1307_1315delinsATTTAGTT ENST00000070846.11:p.Leu436HisfsTer11
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 2009-02-03 no assertion criteria provided arrhythmogenic right ventricular cardiomyopathy germline Detail
Likely pathogenic 2023-04-24 criteria provided, single submitter cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) AND Arrhythmogenic right ventricular car... ClinVar Detail
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) AND Cardiomyopathy ClinVar 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
rs397516992 dbSNP
Genome
hg19
Position
chr12:33,003,763-33,003,771
Variant Type
snv
Reference Allele
CCCCATTTA
Alternative Allele
AACTAAAT
Genome browser