Variant: rs1213060424 

    present in Gene: DLG3
    present in Chromosome: X
    Position on Chromosome: 70449787
    Alleles of this Variant: C/A;T

rs1213060424 in DLG3 gene and Movement Disorders PMID 28777483 2017 Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

PMID 15185169 2004 Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

PMID 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

PMID 19795139 2010 A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.

PMID 22659343 2012 Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

PMID 25649377 2015 Next-generation sequencing in X-linked intellectual disability.

rs1213060424 in DLG3 gene and Muscle hypotonia PMID 28777483 2017 Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

PMID 25649377 2015 Next-generation sequencing in X-linked intellectual disability.

PMID 15185169 2004 Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

PMID 22659343 2012 Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

PMID 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

PMID 19795139 2010 A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.