Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 c.1378+1G>C
(
ENST00000700559.2,
ENST00000700564.2,
ENST00000070846.11,
ENST00000700563.2,
ENST00000340811.9 )
PKP2 c.1378+1G>C ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 ) - Associated Disease
- arrhythmogenic right ventricular cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.1378+1G>C AND Arrhythmogenic right ventricular cardiomyopathy
- ClinVar Allele ID
- 54189
- ClinVar RefSeq Alternation Syntax
- NM_001407155.1:c.1378+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407157.1:c.1378+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407160.1:c.1051+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.1378+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407159.1:c.1051+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407162.1:c.1051+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407156.1:c.1378+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407158.1:c.1051+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.1378+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407161.1:c.1378+1G>C
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-12-15
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000038161
- ClinVar Disease
- Arrhythmogenic right ventricular cardiomyopathy
- Observed Origin Sample
- germline
Drugs