Variant (rsID / SNP)
rs104894493
rs104894493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR2E3. Location: chromosome 15, position 72,103,931. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NR2E3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:72103931
- Cytoband
- 15q23
- HGVS
- NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)
- Allele change
- Missense_R76Q
Associated conditions / phenotypes
Enhanced S-cone syndrome|NR2E3-Related Disorders|Enhanced S-cone syndrome|Retinitis pigmentosa 37|Retinal dystrophy|Goldmann-Favre syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.