Variant: rs267607193 

    present in Gene: IFT122;MBD4
    present in Chromosome: 3
    Position on Chromosome: 129440351
    Alleles of this Variant: G/C

rs267607193 in IFT122;MBD4 gene and CRANIOECTODERMAL DYSPLASIA 1 PMID 24689072 2014 Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.

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

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

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

PMID 26792575 2016 Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.