Variant: rs147718607 

    present in Gene: CCDC114
    present in Chromosome: 19
    Position on Chromosome: 48303953
    Alleles of this Variant: C/T

rs147718607 in CCDC114 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 23261303 2013 Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.

rs147718607 in CCDC114 gene and Ciliary Motility Disorders PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 23261303 2013 Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.