Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Leu90ProfsTer21 (p.L90Pfs*21)
(
ENST00000340811.9,
ENST00000700563.2,
ENST00000700564.2,
ENST00000070846.11,
ENST00000700559.2 )
PKP2 p.Leu90ProfsTer21 (p.L90Pfs*21) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 ) - Associated Disease
- Ventricular tachycardia
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.269_272del (p.Leu90fs) AND Ventricular tachycardia
- ClinVar Allele ID
- 54242
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.269_272del
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.269_272del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-10-06
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000415162
- ClinVar Disease
- Ventricular tachycardia
- Observed Origin Sample
- unknown
Drugs