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Gene entry

RDH12

retinol dehydrogenase 12

Chromosome
14
Cytoband
14q24.1
Variants (rsID)
10

RDH12 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q24.1). Its official name is “retinol dehydrogenase 12”. The reference table lists 10 variants (rsID) for this gene.

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Clinically classified variants

6 reference-table entries with clinical significance.

  • rs104894470Pathogenicsingle nucleotide variantLeber congenital amaurosis 13
  • rs116733939Pathogenicsingle nucleotide variantLeber congenital amaurosis|Leber congenital amaurosis 13
  • rs121434337Pathogenicsingle nucleotide variantLeber congenital amaurosis 13|Leber congenital amaurosis|Rod-cone dystrophy
  • rs28940313Pathogenicsingle nucleotide variantLeber congenital amaurosis 13|Retinal dystrophy
  • rs28940314Pathogenicsingle nucleotide variantLeber congenital amaurosis 13|Leber congenital amaurosis|Cone-rod dystrophy
  • rs28940315Pathogenicsingle nucleotide variantLeber congenital amaurosis 13|Retinitis pigmentosa|Retinal dystrophy|Leber congenital amaurosis

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.