Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Tyr386Cys (p.Y386C)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Tyr386Cys (p.Y386C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- left ventricular noncompaction hypertrophic cardiomyopathy restrictive cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) AND multiple conditions
- ClinVar Allele ID
- 175645
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.1157A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-08-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000151296
- ClinVar Disease
- Restrictive cardiomyopathy
- ClinVar Disease
- Left ventricular noncompaction
- ClinVar Disease
- Hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs