Variant: rs121912631 

    present in Gene: NR2E3
    present in Chromosome: 15
    Position on Chromosome: 71811530
    Alleles of this Variant: G/A;T

rs121912631 in NR2E3 gene and RETINITIS PIGMENTOSA 37 (disorder) PMID 17564971 2007 Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.

PMID 19006237 2009 Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

rs121912631 in NR2E3 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.