Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Leu1793del (p.L1793del)
(
ENST00000713769.1,
ENST00000713768.1,
ENST00000355349.4 )
MYH7 p.Leu1793del (p.L1793del) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- MYH7-related skeletal myopathy dilated cardiomyopathy 1S
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) AND multiple conditions
- ClinVar Allele ID
- 152936
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.5378_5380del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000132758
- ClinVar Disease
- Dilated cardiomyopathy 1S
- ClinVar Disease
- MYH7-related skeletal myopathy
- Observed Origin Sample
- germline
Drugs