Annotation Detail
Information
- Associated Genes
- RYR1 LOC126862902
- Associated Variants
-
RYR1 p.Ile2781ArgfsTer49 (p.I2781Rfs*49)
(
ENST00000355481.8,
ENST00000359596.8,
ENST00000689936.2,
ENST00000713952.1,
ENST00000713953.1 )
RYR1 p.Ile2781ArgfsTer49 (p.I2781Rfs*49) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 ) - Associated Disease
- Congenital multicore myopathy with external ophthalmoplegia
- Source Database
- ClinVar
- Description
- NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) AND Congenital multicore myopathy with external ophthalmoplegia
- ClinVar Allele ID
- 581552
- ClinVar RefSeq Alternation Syntax
- NM_001042723.2:c.8342_8343del
- ClinVar RefSeq Alternation Syntax
- NM_000540.3:c.8342_8343del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-01-25
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002535011
- ClinVar Disease
- Congenital multicore myopathy with external ophthalmoplegia
- Observed Origin Sample
- germline
Drugs