Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Leu436HisfsTer11 (p.L436Hfs*11)
(
ENST00000070846.11,
ENST00000700564.2,
ENST00000700559.2,
ENST00000340811.9,
ENST00000700563.2 )
PKP2 p.Leu436HisfsTer11 (p.L436Hfs*11) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 ) - Associated Disease
- cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) AND Cardiomyopathy
- ClinVar Allele ID
- 54186
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.1307_1315delinsATTTAGTT
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.1307_1315delinsATTTAGTT
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-04-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003486567
- ClinVar Disease
- Cardiomyopathy
- Observed Origin Sample
- germline
Drugs