Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.His733AlafsTer8 (p.H733Afs*8)
(
ENST00000340811.9,
ENST00000070846.11,
ENST00000549461.3,
ENST00000700559.2,
ENST00000700558.2 )
PKP2 p.His733AlafsTer8 (p.H733Afs*8) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 ) - Associated Disease
- cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) AND Cardiomyopathy
- ClinVar Allele ID
- 54230
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.2197_2202delinsG
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.2065_2070delinsG
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001171157
- ClinVar Disease
- Cardiomyopathy
- Observed Origin Sample
- germline
Drugs