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 ) - Associated Disease
- MYH7-related disorder
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND MYH7-related disorder
- ClinVar Allele ID
- 29130
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.1816G>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004545730
- ClinVar Disease
- MYH7-related disorder
- Observed Origin Sample
- unknown
Drugs