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Variant (rsID / SNP)

rs1805022

NR2E3

rs1805022 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR2E3. Location: chromosome 15, position 72,104,450. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NR2E3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:72104450
Cytoband
15q23
HGVS
NM_014249.4(NR2E3):c.505C>T (p.Leu169=)
Allele change
Synonymous_L169L

Associated conditions / phenotypes

Retinitis Pigmentosa, Recessive|Enhanced S-cone syndrome|Retinitis pigmentosa|Goldmann-Favre syndrome

Public references

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