present in Gene: SIX3;SIX3-AS1
present in Chromosome: 2
Position on Chromosome: 44942603
Alleles of this Variant: G/T
rs387906868 in
SIX3;SIX3-AS1 gene and
Schizencephaly
PMID 20157829 2010 Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.