Variant: rs121907922 

    present in Gene: ELP4;PAX6
    present in Chromosome: 11
    Position on Chromosome: 31789935
    Alleles of this Variant: T/A

rs121907922 in ELP4;PAX6 gene and ANTERIOR SEGMENT DYSGENESIS 5 PMID 12552561 2003 Missense mutations in the DNA-binding region and termination codon in PAX6.

PMID 27431685 2016 Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.

PMID 28321846 2017 Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

PMID 11309364 2001 Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

PMID 29618921 2018 PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.

rs121907922 in ELP4;PAX6 gene and Aniridia type 1 PMID 28321846 2017 Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

PMID 27431685 2016 Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.

PMID 29618921 2018 PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.

PMID 12552561 2003 Missense mutations in the DNA-binding region and termination codon in PAX6.

PMID 11309364 2001 Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.