G1649R (p.Gly1649Arg) variant of USH2A (Usherin)
G1649R (p.Gly1649Arg) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sensorineural hearing loss disorder. The record also includes structural context.
G1649R (p.Gly1649Arg) variant details
- p.Gly1649Arg
- rs2527813410
- ClinGen CA344859784
- ClinVar RCV002795936
- ClinVar RCV004817120
- Likely pathogenic
- Sensorineural hearing loss disorder
- Missense
- ClinVar: Likely pathogenic (Sensorineural hearing loss disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available