Annotation Detail
Information
- Associated Genes
- MYH7 LOC126861898
- Associated Variants
-
MYH7 p.Lys847del (p.K847del)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Lys847del (p.K847del) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Primary familial hypertrophic cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) AND Primary familial hypertrophic cardiomyopathy
- ClinVar Allele ID
- 52083
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.2539_2541del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000143922
- ClinVar Disease
- Primary familial hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs