Annotation Detail
Information
- Associated Genes
- RYR1
- Associated Variants
-
RYR1 p.Met2423Lys (p.M2423K)
(
ENST00000355481.8,
ENST00000359596.8,
ENST00000689936.2,
ENST00000713952.1,
ENST00000713953.1 )
RYR1 p.Met2423Lys (p.M2423K) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 ) - Associated Disease
- Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia
- Source Database
- ClinVar
- Description
- NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND multiple conditions
- ClinVar Allele ID
- 28028
- ClinVar RefSeq Alternation Syntax
- NM_001042723.2:c.7268T>A
- ClinVar RefSeq Alternation Syntax
- NM_000540.3:c.7268T>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-10-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002504782
- 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