H29R (p.His29Arg) variant of RPE65 (Retinoid isomerohydrolase)
H29R (p.His29Arg) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 87 with choroidal involvement; Leber congenital amaurosis 2. The record also includes published literature and structural context.
H29R (p.His29Arg) variant details
- p.His29Arg
- rs2523458159
- ClinGen CA340750080
- ClinVar RCV002289206
- ClinVar RCV003097772
- Uncertain significance
- Retinitis pigmentosa 87 with choroidal involvement; Leber congenital amaurosis 2
- Missense
- ClinVar: Uncertain significance (Retinitis pigmentosa 87 with choroidal involvement; Leber congen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Autosomal Recessive RPE65-Related Retinal Degeneration. (PMID 31725251)