Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Ala728Val (p.A728V)
(
ENST00000713769.1,
ENST00000713768.1,
ENST00000355349.4 )
MYH7 p.Ala728Val (p.A728V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) AND Cardiomyopathy
- ClinVar Allele ID
- 29150
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.2183C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2021-10-18
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001183232
- ClinVar Disease
- Cardiomyopathy
- Observed Origin Sample
- germline
Drugs