Variant: rs201740530 

    present in Gene: SPAG1
    present in Chromosome: 8
    Position on Chromosome: 100233436
    Alleles of this Variant: C/T

rs201740530 in SPAG1 gene and CILIARY DYSKINESIA, PRIMARY, 28 PMID 26228299 2016 An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.

PMID 24055112 2013 Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

PMID 27637300 2016 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

rs201740530 in SPAG1 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 24055112 2013 Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.