Gene entry
NR2E3
nuclear receptor subfamily 2 group E member 3
- Chromosome
- 15
- Cytoband
- 15q23
- Variants (rsID)
- 10
NR2E3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q23). Its official name is “nuclear receptor subfamily 2 group E member 3”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs146403122Benignsingle nucleotide variantRetinitis pigmentosa 37|Enhanced S-cone syndrome|Enhanced S-cone syndrome
- rs1805020Benignsingle nucleotide variantRetinitis Pigmentosa, Recessive|Enhanced S-cone syndrome|Goldmann-Favre syndrome
- rs1805023Benignsingle nucleotide variantRetinitis pigmentosa 37|Enhanced S-cone syndrome|Enhanced S-cone syndrome|Retinitis pigmentosa 37|Goldmann-Favre syndrome
- rs104894493Conflicting interpretationssingle nucleotide variantEnhanced S-cone syndrome|NR2E3-Related Disorders|Enhanced S-cone syndrome|Retinitis pigmentosa 37|Retinal dystrophy|Goldmann-Favre syndrome
- rs1805022Conflicting interpretationssingle nucleotide variantRetinitis Pigmentosa, Recessive|Enhanced S-cone syndrome|Retinitis pigmentosa|Goldmann-Favre syndrome
- rs368098126Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Retinal dystrophy
- rs121912631Pathogenicsingle nucleotide variantRetinitis pigmentosa 37|Retinitis pigmentosa|Retinal dystrophy
- rs28937873Pathogenicsingle nucleotide variantEnhanced S-cone syndrome|Goldmann-Favre syndrome|NR2E3-Related Disorders|Enhanced S-cone syndrome|Retinitis pigmentosa 37|Retinitis pigmentosa|Enhanced S-cone syndrome|NR2E3-Related Disorders|Retinal dystrophy|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa 37
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.