Annotation Detail
Information
- Associated Genes
- MYH7 LOC126861898
- Associated Variants
-
MYH7 p.Arg787Cys (p.R787C)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Arg787Cys (p.R787C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- dilated cardiomyopathy 1S
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys) AND Dilated cardiomyopathy 1S
- ClinVar Allele ID
- 171164
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.2359C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001114458
- ClinVar Disease
- Dilated cardiomyopathy 1S
- Observed Origin Sample
- germline
Drugs