Variant: rs121907919 

    present in Gene: PAX6
    present in Chromosome: 11
    Position on Chromosome: 31800837
    Alleles of this Variant: A/T

rs121907919 in PAX6 gene and Aniridia PMID 12634864 2003 Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

PMID 11826019 2002 National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

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

PMID 10234503 1999 Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

PMID 8364574 1993 PAX6 mutations in aniridia.

PMID 24033328 2014 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

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

PMID 9931324 1999 Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

PMID 11553050 2001 PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

PMID 10737978 2000 Mutation in the PAX6 gene in twenty patients with aniridia.

PMID 17595013 2007 A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

PMID 21850189 2011 Mutation spectrum of PAX6 in Chinese patients with aniridia.

PMID 16493447 2006 Molecular analysis of a human PAX6 homeobox mutant.

PMID 9792406 1998 Ten novel mutations found in Aniridia.

PMID 9281415 1997 Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations.

PMID 9856761 1998 Missense mutations in the PAX6 gene in aniridia.

PMID 9147640 1997 Functional analysis of paired box missense mutations in the PAX6 gene.