Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Glu525Lys (p.E525K)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.Glu525Lys (p.E525K) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- dilated cardiomyopathy 1S
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) AND Dilated cardiomyopathy 1S
- ClinVar Allele ID
- 136674
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.1573G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-11-08
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000578453
- ClinVar Disease
- Dilated cardiomyopathy 1S
- Observed Origin Sample
- de novo
Drugs