Variant: rs1346603171 

    present in Gene: CCDC40
    present in Chromosome: 17
    Position on Chromosome: 80048762
    Alleles of this Variant: G/A

rs1346603171 in CCDC40 gene and Ciliary Motility Disorders PMID 23255504 2013 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

PMID 22693285 2012 Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

PMID 21131974 2011 The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.