Variant: rs104894927 

    present in Gene: RP2
    present in Chromosome: X
    Position on Chromosome: 46853731
    Alleles of this Variant: C/T

rs104894927 in RP2 gene and RETINITIS PIGMENTOSA 2 (disorder) PMID 10090907 1999 Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

PMID 15032968 2004 Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

rs104894927 in RP2 gene and Retinal Dystrophies PMID 10053026 1999 Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.

rs104894927 in RP2 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.