Annotation Detail
Information
- Associated Genes
- RYR1
- Associated Variants
-
RYR1 p.Arg2241Ter (p.R2241*)
(
ENST00000355481.8,
ENST00000359596.8,
ENST00000689936.2,
ENST00000713952.1,
ENST00000713953.1 )
RYR1 p.Arg2241Ter (p.R2241*) ( ENST00000355481.8, ENST00000689936.2, ENST00000359596.8, ENST00000713952.1, ENST00000713953.1 ) - Associated Disease
- Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia
- Source Database
- ClinVar
- Description
- NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND multiple conditions
- ClinVar Allele ID
- 169564
- ClinVar RefSeq Alternation Syntax
- NM_000540.3:c.6721C>T
- ClinVar RefSeq Alternation Syntax
- NM_001042723.2:c.6721C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-09-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002505131
- ClinVar Disease
- Congenital myopathy with fiber type disproportion
- ClinVar Disease
- Congenital multicore myopathy with external ophthalmoplegia
- ClinVar Disease
- King Denborough syndrome
- ClinVar Disease
- Central core myopathy
- ClinVar Disease
- Malignant hyperthermia, susceptibility to, 1
- Observed Origin Sample
- unknown
Drugs