Variant: rs1557198821 

    present in Gene: GDI1
    present in Chromosome: X
    Position on Chromosome: 154441196
    Alleles of this Variant: G/A

rs1557198821 in GDI1 gene and Muscle hypotonia PMID 9106537 1997 A gene for dominant nonspecific X-linked mental retardation is located in Xq28.

PMID 9620768 1998 Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

PMID 17304053 2007 MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

PMID 22002931 2011 Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.

PMID 7615494 1995 Rab GDP dissociation inhibitor: putting rab GTPases in the right place.

PMID 7543319 1995 Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport.

PMID 9668174 1998 Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

PMID 20004760 2009 Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.