Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg369Gln (p.R369Q)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Arg369Gln (p.R369Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) AND Cardiovascular phenotype
- ClinVar Allele ID
- 51992
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.1106G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-02-11
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000587847
- Observed Origin Sample
- germline
Drugs