Variant: rs879255280 

    present in Gene: SMO
    present in Chromosome: 7
    Position on Chromosome: 129206557
    Alleles of this Variant: C/T

rs879255280 in SMO gene and Winter Shortland Temple syndrome PMID 27236920 2016 A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

PMID 24859340 2014 Identification of recurrent SMO and BRAF mutations in ameloblastomas.