Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Gly716Arg (p.G716R)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Gly716Arg (p.G716R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- hypertrophic cardiomyopathy 1
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) AND Hypertrophic cardiomyopathy 1
- ClinVar Allele ID
- 29144
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.2146G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015161
- ClinVar Disease
- Hypertrophic cardiomyopathy 1
- Observed Origin Sample
- germline
- Pubmed
- 8282798
Drugs