Y1088C (p.Tyr1088Cys) variant of RYR1 (Ryanodine receptor 1)
Y1088C (p.Tyr1088Cys) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Centronuclear myopathy. The record also includes published literature.
Y1088C (p.Tyr1088Cys) variant details
- p.Tyr1088Cys
- rs2514101882
- ClinVar RCV004587604
- UniProt VAR 068512
- Likely pathogenic
- Centronuclear myopathy
- Missense
- ClinVar: Likely pathogenic (Centronuclear myopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. (PMID 22752422)