G401R (p.Gly401Arg) variant of OPA1 (O60313)
G401R (p.Gly401Arg) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Auditory neuropathy. The record also includes structural context.
G401R (p.Gly401Arg) variant details
- p.Gly401Arg
- rs2474872099
- ClinGen CA355789388
- ClinVar RCV003484499
- Pathogenic
- Auditory neuropathy
- Missense
- ClinVar: Pathogenic (Auditory neuropathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available