Variant: rs80338759 

    present in Gene: MED12
    present in Chromosome: X
    Position on Chromosome: 71127931
    Alleles of this Variant: A/G

rs80338759 in MED12 gene and Lujan Fryns syndrome PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 17369503 2007 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.