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Variant (rsID / SNP)

rs368098126

NR2E3

rs368098126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR2E3. Location: chromosome 15, position 72,104,750. 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
15:72104750
Cytoband
15q23
HGVS
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser)
Allele change
Missense_G216S

Associated conditions / phenotypes

Retinitis pigmentosa|Retinal dystrophy

Public references

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