D1777G (p.Asp1777Gly) variant of OTOF (Otoferlin)
D1777G (p.Asp1777Gly) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Auditory neuropathy. The record also includes structural context.
D1777G (p.Asp1777Gly) variant details
- p.Asp1777Gly
- rs2465498743
- ClinGen CA346131728
- ClinVar RCV003484469
- Likely pathogenic
- Auditory neuropathy
- Missense
- ClinVar: Likely pathogenic (Auditory neuropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available