Variant (rsID / SNP)

rs1805020

rs1805020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR2E3. Location: chromosome 15, position 72,104,364. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NR2E3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:72104364
Cytoband: 15q23
HGVS: NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly)
Allele change: Missense_E140G

Associated conditions / phenotypes

Retinitis Pigmentosa, Recessive|Enhanced S-cone syndrome|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.