Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Leu1045Phe (p.L1045F)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Leu1045Phe (p.L1045F) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- arrhythmogenic right ventricular cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) AND Arrhythmogenic right ventricular cardiomyopathy
- ClinVar Allele ID
- 78369
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.3133C>T
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.2113C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2013-10-09
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000143906
- ClinVar Disease
- Arrhythmogenic right ventricular cardiomyopathy
- Observed Origin Sample
- germline
Drugs