R295G (p.Arg295Gly) variant of FKRP (Q9H9S5)
R295G (p.Arg295Gly) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies). The record also includes structural context.
R295G (p.Arg295Gly) variant details
- p.Arg295Gly
- rs2054921636
- ClinGen CA406496211
- ClinVar RCV001175208
- TOPMed rs2054921636
- Likely pathogenic
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
- Missense
- ClinVar: Likely pathogenic (Muscular dystrophy-dystroglycanopathy (congenital with brain and)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available