Annotation Detail
Information
- Associated Genes
- RYR1
- Associated Variants
-
RYR1 p.Pro3527Ser (p.P3527S)
(
ENST00000355481.8,
ENST00000359596.8,
ENST00000689936.2,
ENST00000713952.1,
ENST00000713953.1 )
RYR1 p.Pro3527Ser (p.P3527S) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 ) - Associated Disease
- Central core disease, autosomal recessive
- Source Database
- ClinVar
- Description
- NM_000540.3(RYR1):c.10579C>T (p.Pro3527Ser) AND Central core disease, autosomal recessive
- ClinVar Allele ID
- 28022
- ClinVar RefSeq Alternation Syntax
- NM_001042723.2:c.10564C>T
- ClinVar RefSeq Alternation Syntax
- NM_000540.3:c.10579C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013854
- ClinVar Disease
- Central core disease, autosomal recessive
- Observed Origin Sample
- germline
- Pubmed
- 12112081
Drugs