Variant: rs1224050823 

    present in Gene: IFT122
    present in Chromosome: 3
    Position on Chromosome: 129495534
    Alleles of this Variant: T/C

rs1224050823 in IFT122 gene and CRANIOECTODERMAL DYSPLASIA 1 PMID 26792575 2016 Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.

PMID 24689072 2014 Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.

PMID 23826986 2014 Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

PMID 29220510 2018 Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.

PMID 20493458 2010 Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.