Annotation Detail
Information
- Associated Genes
- RYR1
- Associated Variants
-
RYR1 p.Arg999His (p.R999H)
(
ENST00000355481.8,
ENST00000359596.8,
ENST00000689936.2,
ENST00000713952.1,
ENST00000713953.1 )
RYR1 p.Arg999His (p.R999H) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 ) - Associated Disease
- Central core myopathy
- Source Database
- ClinVar
- Description
- NM_000540.3(RYR1):c.2996G>A (p.Arg999His) AND Central core myopathy
- ClinVar Allele ID
- 136869
- ClinVar RefSeq Alternation Syntax
- NM_001042723.2:c.2996G>A
- ClinVar RefSeq Alternation Syntax
- NM_000540.3:c.2996G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-03-26
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000391226
- ClinVar Disease
- Central core myopathy
- Observed Origin Sample
- germline
- Observed Origin Sample
- paternal
Drugs