Variant: rs780942050 

    present in Gene: SIX3
    present in Chromosome: 2
    Position on Chromosome: 44944651
    Alleles of this Variant: C/T

rs780942050 in SIX3 gene and HOLOPROSENCEPHALY 2 (disorder) PMID 18791198 2008 Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

PMID 17001667 2006 SIX3 mutations with holoprosencephaly.

PMID 15523651 2004 Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.

PMID 15221788 2004 Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

PMID 20531442 2010 The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

PMID 10369266 1999 Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.