Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Leu1793Pro (p.L1793P)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.Leu1793Pro (p.L1793P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- hypertrophic cardiomyopathy 1
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) AND Hypertrophic cardiomyopathy 1
- ClinVar Allele ID
- 29162
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.5378T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-04-14
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015182
- ClinVar Disease
- Hypertrophic cardiomyopathy 1
- Observed Origin Sample
- germline
- Pubmed
- 4104682
- Pubmed
- 16684601
- Pubmed
- 19336582
- Pubmed
- 19138847
Drugs