Variant: rs1553862987 

    present in Gene: SOX2;SOX2-OT
    present in Chromosome: 3
    Position on Chromosome: 181712694
    Alleles of this Variant: C/G

rs1553862987 in SOX2;SOX2-OT gene and Multiple congenital anomalies PMID 15578584 2005 Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.

PMID 15812812 2005 SOX2 anophthalmia syndrome.

PMID 19921648 2009 Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

PMID 20803647 2010 Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.

PMID 16145681 2005 SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

PMID 27427475 2016 Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

PMID 17219395 2007 Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.

PMID 16932809 2006 Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.