Variant: rs587777779

present in Gene: CCDC151 present in Chromosome: 19 Position on Chromosome: 11426182 Alleles of this Variant: C/A;T

rs587777779 in CCDC151 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 25224326 2014 Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.

PMID 25192045 2014 CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.