Gene entry
PRPH2
peripherin 2
- Chromosome
- 6
- Cytoband
- 6p21.1
- Variants (rsID)
- 12
PRPH2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p21.1). Its official name is “peripherin 2”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs189358082Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Pigmentary retinal dystrophy|Patterned macular dystrophy 1|Choroidal dystrophy, central areolar 2|Cone-rod dystrophy|Adult-onset foveomacular vitelliform dystrophy
- rs61755770Conflicting interpretationssingle nucleotide variantPatterned macular dystrophy 1|PRPH2-Related Disorders|Pigmentary retinal dystrophy|Retinitis pigmentosa|Choroidal dystrophy, central areolar 2|Adult-onset foveomacular vitelliform dystrophy|Cone-rod dystrophy
- rs121918563Pathogenicsingle nucleotide variantRetinitis pigmentosa 7, digenic|Patterned macular dystrophy 1|Leber congenital amaurosis 18|Patterned dystrophy of the retinal pigment epithelium|Retinal dystrophy|PRPH2-Related Disorders|Retinitis pigmentosa
- rs121918567Pathogenicsingle nucleotide variantChoroidal dystrophy, central areolar 2
- rs527236098Pathogenicsingle nucleotide variantRetinitis pigmentosa|PRPH2-Related Disorders|Retinal dystrophy|Stargardt disease
- rs61755783Pathogenicsingle nucleotide variantChoroidal dystrophy, central areolar 2|Cone dystrophy|Progressive cone dystrophy (without rod involvement)|PRPH2-Related Disorders|maculopathy|Retinal dystrophy|Stargardt disease|Retinitis pigmentosa|Patterned macular dystrophy 1|Patterned dystrophy of the retinal pigment epithelium
- rs61755806Pathogenicsingle nucleotide variantRetinitis pigmentosa 7|Retinitis pigmentosa|PRPH2-Related Disorders|Retinal dystrophy|Patterned dystrophy of the retinal pigment epithelium
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.