L13V (p.Leu13Val) variant of RYR1 (Ryanodine receptor 1)
L13V (p.Leu13Val) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMYO1B. The record also includes published literature.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- UniProt VAR 045694
- Pathogenic
- in CMYO1B
- Missense
- EBI: Pathogenic (in CMYO1B)
- UniProt: Pathogenic (in CMYO1B)
- Cited in: Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive… (PMID 18253926)
- Cited in: A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a… (PMID 12112081)