Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 c.2489+1G>T
(
ENST00000340811.9,
ENST00000700558.2,
ENST00000700559.2,
ENST00000549461.3,
ENST00000070846.11 )
PKP2 c.2489+1G>T ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 ) - Associated Disease
- arrhythmogenic right ventricular cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.2357+1G>T AND Arrhythmogenic right ventricular cardiomyopathy
- ClinVar Allele ID
- 54238
- ClinVar RefSeq Alternation Syntax
- NM_001407156.1:c.2192+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407155.1:c.2168-3377G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407159.1:c.2030+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407160.1:c.1841-3377G>T
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.2357+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.2489+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407158.1:c.2030+1G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2009-10-07
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000038212
- ClinVar Disease
- Arrhythmogenic right ventricular cardiomyopathy
- Observed Origin Sample
- germline
Drugs