Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Pro779SerfsTer21 (p.P779Sfs*21)
(
ENST00000700559.2,
ENST00000700558.2,
ENST00000070846.11,
ENST00000549461.3,
ENST00000340811.9 )
PKP2 p.Pro779SerfsTer21 (p.P779Sfs*21) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 ) - Associated Disease
- arrhythmogenic right ventricular cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) AND Arrhythmogenic right ventricular cardiomyopathy
- ClinVar Allele ID
- 54232
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.2202_2206delinsCAGT
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.2334_2338delinsCAGT
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-04-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000038205
- ClinVar Disease
- Arrhythmogenic right ventricular cardiomyopathy
- Observed Origin Sample
- germline
Drugs