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Gene entry

RPGRIP1

RPGR interacting protein 1

Chromosome
14
Cytoband
14q11.2
Variants (rsID)
25

RPGRIP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q11.2). Its official name is “RPGR interacting protein 1”. The reference table lists 25 variants (rsID) for this gene.

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Clinically classified variants

15 reference-table entries with clinical significance.

  • rs10151259Benignsingle nucleotide variantCone-rod dystrophy 13|Leber congenital amaurosis 6|Leber congenital amaurosis 1|Cone-rod dystrophy 13|Leber congenital amaurosis 6
  • rs1040904Benignsingle nucleotide variantCone-rod dystrophy 13|Leber congenital amaurosis 6|Cone-rod dystrophy 13|Leber congenital amaurosis 6
  • rs17103671Benignsingle nucleotide variantLeber congenital amaurosis 6|Cone-rod dystrophy 13|Leber congenital amaurosis 6
  • rs34067949Benignsingle nucleotide variantLeber congenital amaurosis 6|Cone-rod dystrophy 13|Leber congenital amaurosis 6|Cone-rod dystrophy 13
  • rs34116882Benignsingle nucleotide variantCone-rod dystrophy 13|Leber congenital amaurosis 6|Leber congenital amaurosis 6|Cone-rod dystrophy 13
  • rs34725281Benignsingle nucleotide variantLeber congenital amaurosis 6|Cone-rod dystrophy 13|Cone-rod dystrophy 13|Leber congenital amaurosis 6
  • rs6571751Benignsingle nucleotide variantLeber congenital amaurosis 6|Cone-rod dystrophy 13|Cone-rod dystrophy 13|Leber congenital amaurosis 6
  • rs9322965Benignsingle nucleotide variantLeber congenital amaurosis 6|Cone-rod dystrophy 13|Cone-rod dystrophy 13|Leber congenital amaurosis 6
  • rs145896974Conflicting interpretationssingle nucleotide variantCone-rod dystrophy 13|Leber congenital amaurosis 6|Leber congenital amaurosis 6|Cone-rod dystrophy 13
  • rs186266220Conflicting interpretationssingle nucleotide variantCone-rod dystrophy 13|Leber congenital amaurosis 6|Leber congenital amaurosis 6|Cone-rod dystrophy 13
  • rs200225522Conflicting interpretationssingle nucleotide variantCone-rod dystrophy 13|Leber congenital amaurosis 6|Cone-rod dystrophy 13|Leber congenital amaurosis 6
  • rs376517859Conflicting interpretationssingle nucleotide variantCone-rod dystrophy 13|Leber congenital amaurosis 6|Leber congenital amaurosis 6|Cone-rod dystrophy 13
  • rs28937883Pathogenicsingle nucleotide variantCone-rod dystrophy 13
  • rs200401966Uncertain significancesingle nucleotide variantLeber congenital amaurosis 6|Cone-rod dystrophy 13|Leber congenital amaurosis 6|Cone-rod dystrophy 13
  • rs3748357Not classifiedmissense_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.