Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg694Cys (p.R694C)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Arg694Cys (p.R694C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- hypertrophic cardiomyopathy 1
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) AND Hypertrophic cardiomyopathy 1
- ClinVar Allele ID
- 175630
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.2080C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-12-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000786922
- ClinVar Disease
- Hypertrophic cardiomyopathy 1
- Observed Origin Sample
- germline
Drugs