Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.His1901Leu (p.H1901L)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.His1901Leu (p.H1901L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Myosin storage myopathy
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.5702A>T (p.His1901Leu) AND Myosin storage myopathy
- ClinVar Allele ID
- 29156
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.5702A>T
- 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/RCV003320034
- ClinVar Disease
- Myosin storage myopathy
- Observed Origin Sample
- germline
- Pubmed
- 15699411
- Pubmed
- 14663035
- Pubmed
- 15136674
- Pubmed
- 19336582
Drugs