Variant (rsID / SNP)

rs121912631

rs121912631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR2E3. Location: chromosome 15, position 72,103,870. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NR2E3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:72103870
Cytoband: 15q23
HGVS: NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)
Allele change: Missense_G56R

Associated conditions / phenotypes

Retinitis pigmentosa 37|Retinitis pigmentosa|Retinal dystrophy

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.