Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Val587SerfsTer69 (p.V587Sfs*69)
(
ENST00000700559.2,
ENST00000700564.2,
ENST00000070846.11,
ENST00000700563.2,
ENST00000340811.9 )
PKP2 p.Val587SerfsTer69 (p.V587Sfs*69) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 ) - Associated Disease
- cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.1627del (p.Val543fs) AND Cardiomyopathy
- ClinVar Allele ID
- 54212
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.1627del
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.1759del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-05-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001525490
- ClinVar Disease
- Cardiomyopathy
- Observed Origin Sample
- germline
Drugs