Variant: rs587777480

present in Gene: SOX11;LINC01248 present in Chromosome: 2 Position on Chromosome: 5692899 Alleles of this Variant: T/C

rs587777480 in SOX11;LINC01248 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 PMID 24886874 2014 De novo SOX11 mutations cause Coffin-Siris syndrome.