Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Ser837ValfsTer94 (p.S837Vfs*94)
(
ENST00000340811.9,
ENST00000700558.2,
ENST00000700559.2,
ENST00000070846.11,
ENST00000549461.3 )
PKP2 p.Ser837ValfsTer94 (p.S837Vfs*94) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 ) - Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.2377del (p.Ser793fs) AND Cardiovascular phenotype
- ClinVar Allele ID
- 175861
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.2509del
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.2377del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000251945
- Observed Origin Sample
- germline
Drugs