Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Val606Met (p.V606M)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Val606Met (p.V606M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND Cardiovascular phenotype
- ClinVar Allele ID
- 29130
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.1816G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-10-24
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000252267
- Observed Origin Sample
- germline
Drugs