Gene entry
PROM1
prominin 1
- Chromosome
- 4
- Cytoband
- 4p15.32
- Variants (rsID)
- 43
PROM1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4p15.32). Its official name is “prominin 1”. The reference table lists 43 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs10033086Benignsingle nucleotide variantRetinitis pigmentosa|Stargardt disease 4|Retinal macular dystrophy type 2|Cone-rod dystrophy 12
- rs10033189Benignsingle nucleotide variantStargardt disease 4|Cone-rod dystrophy 12|Retinal macular dystrophy type 2|Retinitis pigmentosa
- rs2286455Benignsingle nucleotide variantCone-rod dystrophy 12|Retinitis pigmentosa|Retinal macular dystrophy type 2|Stargardt disease 4
- rs3130Benignsingle nucleotide variantStargardt disease 4|Retinitis pigmentosa|Cone-rod dystrophy 12|Retinal macular dystrophy type 2
- rs55708318Benignsingle nucleotide variantStargardt disease 4|Retinitis pigmentosa|Cone-rod dystrophy 12|Retinal macular dystrophy type 2
- rs6449209Benignsingle nucleotide variantCone-rod dystrophy 12|Retinitis pigmentosa|Stargardt disease 4|Retinal macular dystrophy type 2|Retinitis pigmentosa 41
- rs140872693Conflicting interpretationssingle nucleotide variantCone-rod dystrophy 12|Retinal macular dystrophy type 2|Stargardt disease 4|Retinitis pigmentosa|Retinal macular dystrophy type 2|Stargardt disease 4|Cone-rod dystrophy 12|Retinitis pigmentosa 41|Retinitis pigmentosa 41|Autosomal recessive retinitis pigmentosa
- rs79077926Conflicting interpretationssingle nucleotide variantStargardt disease 4|Retinal macular dystrophy type 2|Cone-rod dystrophy 12|Retinitis pigmentosa
- rs137853006Pathogenicsingle nucleotide variantStargardt disease 4|Retinal macular dystrophy type 2|Cone-rod dystrophy 12|Retinal dystrophy|Macular dystrophy|Stargardt disease|Retinitis pigmentosa
- rs137853907Pathogenicsingle nucleotide variantRetinal dystrophy|Cone-rod dystrophy 12
Other listed variants
- rs1356415
- rs1400771
- rs1517599
- rs2058147
- rs2313734
- rs2531155
- rs2677789
- rs3796854
- rs4698131
- rs7666123
- rs7667527
- rs7667979
- rs10010994
- rs10024501
- rs10428501
- rs10939648
- rs12649852
- rs13133886
- rs13150823
- rs16892782
- rs17478336
- rs17478392
- rs28532245
- rs56131062
- rs73122485
- rs73230293
- rs73230298
- rs79229653
- rs80092860
- rs116130729
- rs116447403
- rs116672998
- rs144048597
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.