Variant: rs121434350 

    present in Gene: AHI1
    present in Chromosome: 6
    Position on Chromosome: 135455750
    Alleles of this Variant: A/T

rs121434350 in AHI1 gene and JOUBERT SYNDROME 3 PMID 15322546 2004 Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

PMID 21623382 2011 Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

PMID 23532844 2013 The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

PMID 15467982 2004 Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

PMID 16155189 2006 AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

PMID 16453322 2006 AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.