Variant (rsID / SNP)

rs1805023

rs1805023 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR2E3. Location: chromosome 15, position 72,104,798. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NR2E3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:72104798
Cytoband: 15q23
HGVS: NM_014249.4(NR2E3):c.694G>A (p.Val232Ile)
Allele change: Missense_V232I

Associated conditions / phenotypes

Retinitis pigmentosa 37|Enhanced S-cone syndrome|Enhanced S-cone syndrome|Retinitis pigmentosa 37|Goldmann-Favre syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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