Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg1845Trp (p.R1845W)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.Arg1845Trp (p.R1845W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- hyaline body myopathy
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) AND Hyaline body myopathy
- ClinVar Allele ID
- 29153
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.5533C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-03-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004017246
- ClinVar Disease
- Hyaline body myopathy
- Observed Origin Sample
- germline
Drugs