Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Arg735Ter (p.R735*)
(
ENST00000340811.9,
ENST00000070846.11,
ENST00000549461.3,
ENST00000700558.2,
ENST00000700559.2 )
PKP2 p.Arg735Ter (p.R735*) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) AND not provided
- ClinVar Allele ID
- 21794
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.2071C>T
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.2203C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-10-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001557815
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs