Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Ser384Tyr (p.S384Y)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Ser384Tyr (p.S384Y) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Familial cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.1151C>A (p.Ser384Tyr) AND Familial cardiomyopathy
- ClinVar Allele ID
- 136679
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.1151C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000148979
- ClinVar Disease
- Familial cardiomyopathy
- Observed Origin Sample
- not provided
Drugs