Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg719Trp (p.R719W)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Arg719Trp (p.R719W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- hypertrophic cardiomyopathy 1
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND Hypertrophic cardiomyopathy 1
- ClinVar Allele ID
- 29143
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.2155C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-04-16
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015160
- ClinVar Disease
- Hypertrophic cardiomyopathy 1
- Observed Origin Sample
- germline
- Pubmed
- 9544842
- Pubmed
- 8282798
Drugs