Variant: rs80338758 

    present in Gene: MED12
    present in Chromosome: X
    Position on Chromosome: 71127367
    Alleles of this Variant: C/A;T

rs80338758 in MED12 gene and FG syndrome PMID 17334363 2007 A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

PMID 19938245 2009 We ascertained 23 males with the p.R961W mutation in MED12 from 9 previously reported FG syndrome families and 1 new family.Six patients are reviewed in detail.

PMID 20981778 2010 (2007); Nature Genetics 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the original family reported in 1974.