Variant: rs62638634

present in Gene: RPGR present in Chromosome: X Position on Chromosome: 38322921 Alleles of this Variant: C/A

rs62638634 in RPGR gene and Ciliary Motility Disorders PMID 10937588 2000 X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

PMID 9855162 1998 X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.

PMID 9399904 1997 Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.