Annotation Detail
Information
- Associated Genes
- RYR1
- Associated Variants
-
RYR1 c.10348-6C>G
(
ENST00000355481.8,
ENST00000359596.8,
ENST00000689936.2,
ENST00000713952.1,
ENST00000713953.1 )
RYR1 p.Val4842Met (p.V4842M) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 c.10348-6C>G ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Val4842Met (p.V4842M) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 ) - Associated Disease
- Congenital multicore myopathy with external ophthalmoplegia
- Source Database
- ClinVar
- Description
- NM_000540.2(RYR1):c.[10348-6C>G;14524G>A] AND Congenital multicore myopathy with external ophthalmoplegia
- ClinVar Allele ID
- 70540
- ClinVar Allele ID
- 38832
- ClinVar RefSeq Alternation Syntax
- NM_000540.3:c.10348-6C>G
- ClinVar RefSeq Alternation Syntax
- NM_001042723.2:c.14509G>A
- ClinVar RefSeq Alternation Syntax
- NM_001042723.2:c.10348-6C>G
- ClinVar RefSeq Alternation Syntax
- NM_000540.3:c.14524G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022758
- ClinVar Disease
- Congenital multicore myopathy with external ophthalmoplegia
- Observed Origin Sample
- germline
- Pubmed
- 20839240
- Pubmed
- 18253926
Drugs