Variant: rs137852540 

    present in Gene: PRPS1
    present in Chromosome: X
    Position on Chromosome: 107640936
    Alleles of this Variant: A/G

rs137852540 in PRPS1 gene and Dysmorphic features PMID 24285972 2013 Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

PMID 26089585 2015 Association of PRPS1 Mutations with Disease Phenotypes.

PMID 20021999 2010 Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

PMID 17701896 2007 Arts syndrome is caused by loss-of-function mutations in PRPS1.

PMID 20380929 2010 PRPS1 mutations: four distinct syndromes and potential treatment.

PMID 24528855 2014 X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

PMID 12847698 2003 Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.

PMID 25491489 2014 Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

PMID 15955956 2005 A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

PMID 8498830 1993 X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

PMID 8968763 1996 Mapping of DFN2 to Xq22.

PMID 25785835 2015 Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

rs137852540 in PRPS1 gene and Muscle hypotonia PMID 8968763 1996 Mapping of DFN2 to Xq22.

PMID 25785835 2015 Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

PMID 26089585 2015 Association of PRPS1 Mutations with Disease Phenotypes.

PMID 8498830 1993 X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

PMID 25491489 2014 Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

PMID 20021999 2010 Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

PMID 15955956 2005 A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

PMID 24528855 2014 X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

PMID 17701896 2007 Arts syndrome is caused by loss-of-function mutations in PRPS1.

PMID 20380929 2010 PRPS1 mutations: four distinct syndromes and potential treatment.

PMID 24285972 2013 Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

PMID 12847698 2003 Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.

rs137852540 in PRPS1 gene and Phosphoribosylpyrophosphate Synthetase Superactivity PMID 7593598 1995 The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.