present in Gene: DLG3
present in Chromosome: X
Position on Chromosome: 70445552
Alleles of this Variant: T/A;C
rs1241142887 in
DLG3 gene and
Dysmorphic features
PMID 19795139 2010 A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.
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 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
PMID 22659343 2012 Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.
rs1241142887 in
DLG3 gene and
Muscle hypotonia
PMID 22659343 2012 Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.
PMID 19795139 2010 A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.
PMID 28777483 2017 Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
PMID 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
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.