Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Thr50SerfsTer61 (p.T50Sfs*61)
(
ENST00000340811.9,
ENST00000546741.3,
ENST00000700563.2,
ENST00000700564.2,
ENST00000070846.11,
ENST00000700559.2 )
PKP2 p.Thr50SerfsTer61 (p.T50Sfs*61) ( ENST00000340811.9, ENST00000546741.3, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2, ENST00000070846.11 ) - Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) AND Cardiovascular phenotype
- ClinVar Allele ID
- 54195
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.148_151del
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.148_151del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-02-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002390156
- Observed Origin Sample
- germline
Drugs