D33H (p.Asp33His) variant of OPTN (Optineurin)
D33H (p.Asp33His) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrophic lateral scle. The record also includes published literature and structural context.
D33H (p.Asp33His) variant details
- p.Asp33His
- rs2539033570
- ClinGen CA376027129
- ClinVar RCV003802485
- Uncertain significance
- Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrophic lateral scle
- Missense
- ClinVar: Uncertain significance (Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)