Variant: rs1554412300 

    present in Gene: FOXP2
    present in Chromosome: 7
    Position on Chromosome: 114534645
    Alleles of this Variant: T/G

rs1554412300 in FOXP2 gene and Muscle hypotonia PMID 17033973 2006 Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

PMID 22105961 2012 Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families.

PMID 27572252 2017 FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

PMID 28741757 2017 Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.

PMID 15877281 2005 Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.

PMID 11894222 2002 FOXP2 is not a major susceptibility gene for autism or specific language impairment.

PMID 28190287 2017 A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

PMID 2332125 1990 An extended family with a dominantly inherited speech disorder.

PMID 27933109 2016 Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.