Annotation Detail
Information
- Associated Genes
- RYR1
- Associated Variants
-
RYR1 p.His3981Tyr (p.H3981Y)
(
ENST00000355481.8,
ENST00000359596.8,
ENST00000689936.2,
ENST00000713952.1,
ENST00000713953.1 )
RYR1 p.His3981Tyr (p.H3981Y) ( 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.11941C>T (p.His3981Tyr) AND Congenital multicore myopathy with external ophthalmoplegia
- ClinVar Allele ID
- 38833
- ClinVar RefSeq Alternation Syntax
- NM_000540.3:c.11941C>T
- ClinVar RefSeq Alternation Syntax
- NM_001042723.2:c.11926C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-01-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022759
- ClinVar Disease
- Congenital multicore myopathy with external ophthalmoplegia
- Observed Origin Sample
- germline
Drugs