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Variant (rsID / SNP)

rs28937873

NR2E3

rs28937873 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR2E3. Location: chromosome 15, position 72,105,913. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NR2E3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:72105913
Cytoband
15q23
HGVS
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
Allele change
Missense_R311Q

Associated conditions / phenotypes

Enhanced 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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.