R24C (p.Arg24Cys) variant of BIN1 (O00499)
R24C (p.Arg24Cys) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myopathy, centronuclear, 2. The record also includes published literature and structural context.
R24C (p.Arg24Cys) variant details
- p.Arg24Cys
- rs2105378684
- ClinGen CA348376115
- ClinVar RCV003511446
- UniProt VAR 081081
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. (PMID 25260562)
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)