Annotation Detail
Information
- Associated Genes
- MYH7 LOC126861898
- Associated Variants
-
MYH7 p.Arg783Pro (p.R783P)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.Arg783Pro (p.R783P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Primary dilated cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) AND Primary dilated cardiomyopathy
- ClinVar Allele ID
- 52065
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.2348G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-08-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000035784
- ClinVar Disease
- Primary dilated cardiomyopathy
- Observed Origin Sample
- germline
Drugs