Gene entry
RPE65
retinoid isomerohydrolase RPE65
- Chromosome
- 1
- Cytoband
- 1p31.3
- Variants (rsID)
- 20
RPE65 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p31.3). Its official name is “retinoid isomerohydrolase RPE65”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
13 reference-table entries with clinical significance.
- rs2274321Benignsingle nucleotide variantLeber congenital amaurosis 2|Retinitis pigmentosa 87 with choroidal involvement
- rs61752901Benignsingle nucleotide variantLeber congenital amaurosis 2|Retinitis pigmentosa 20|Leber congenital amaurosis 2|Retinitis pigmentosa|Leber congenital amaurosis
- rs62653015Likely pathogenicsingle nucleotide variantLeber congenital amaurosis 2|Retinitis pigmentosa 20|Leber congenital amaurosis 2|Leber congenital amaurosis
- rs121917745Pathogenicsingle nucleotide variantRetinitis pigmentosa 20|Leber congenital amaurosis 2|Retinitis pigmentosa|Leber congenital amaurosis 2|Retinitis pigmentosa 20|Leber congenital amaurosis
- rs61751276Pathogenicsingle nucleotide variantLeber congenital amaurosis 2|Retinal dystrophy|Retinitis pigmentosa 20|Leber congenital amaurosis 2|Retinitis pigmentosa 20|Leber congenital amaurosis
- rs61751281Pathogenicsingle nucleotide variantRetinitis pigmentosa|Retinal dystrophy|Leber congenital amaurosis 2|Retinitis pigmentosa 20|Leber congenital amaurosis 2|Leber congenital amaurosis
- rs61752871Pathogenicsingle nucleotide variantRetinitis pigmentosa 20|Retinitis pigmentosa 20|Leber congenital amaurosis 2|Retinitis pigmentosa|Leber congenital amaurosis 2|Retinal dystrophy|Retinitis pigmentosa 20|Leber congenital amaurosis|RPE65-Related Disorders|Autosomal recessive retinitis pigmentosa|Leber congenital amaurosis|Abnormality of the eye
- rs61752883Pathogenicsingle nucleotide variantRetinitis pigmentosa 20|RPE65-Related Disorders|Leber congenital amaurosis 2|Retinitis pigmentosa 20|Leber congenital amaurosis 2|Leber congenital amaurosis
- rs61752904Pathogenicsingle nucleotide variantLeber congenital amaurosis 2
- rs62636300Pathogenicsingle nucleotide variantLeber congenital amaurosis 2|Retinitis pigmentosa 20|Leber congenital amaurosis 2
- rs62653011Pathogenicsingle nucleotide variantRetinitis pigmentosa 20|Leber congenital amaurosis 2|RPE65-Related Disorders|Retinitis pigmentosa|Retinitis pigmentosa 20|Leber congenital amaurosis 2|Leber congenital amaurosis
- rs201062742Uncertain significancesingle nucleotide variantLeber congenital amaurosis 2|Retinitis pigmentosa
- rs62642584Not classifiedsingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.