Variant: rs137852550 

    present in Gene: RPGR
    present in Chromosome: X
    Position on Chromosome: 38317418
    Alleles of this Variant: C/G

rs137852550 in RPGR gene and RETINITIS PIGMENTOSA 3 PMID 11180598 2001 Five novel RPGR mutations in families with X-linked retinitis pigmentosa.

PMID 10737996 2000 Novel mutations of the RPGR gene in RP3 families.

PMID 8673101 1996 A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).

PMID 14564670 2003 RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

PMID 10932196 2000 Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

PMID 12657579 2003 X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

PMID 10937588 2000 X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

PMID 11992260 2002 A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

PMID 10970770 2000 Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

PMID 8817343 1996 Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

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 24981858 2014 C2 domains as protein-protein interaction modules in the ciliary transition zone.

PMID 10482958 1999 Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

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

rs137852550 in RPGR gene and Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness PMID 12920075 2003 RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.

PMID 14627685 2003 Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.