D91G (p.Asp91Gly) variant of USH1C (Harmonin)
D91G (p.Asp91Gly) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Usher syndrome type 1C. The record also includes published literature and structural context.
D91G (p.Asp91Gly) variant details
- p.Asp91Gly
- rs2497224482
- ClinGen CA379797340
- ClinVar RCV003990306
- Uncertain significance
- Usher syndrome type 1C
- Missense
- ClinVar: Uncertain significance (Usher syndrome type 1C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)