Variant: rs138320978 

    present in Gene: RSPH1
    present in Chromosome: 21
    Position on Chromosome: 42493049
    Alleles of this Variant: C/A;T

rs138320978 in RSPH1 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 24568568 2014 Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.

rs138320978 in RSPH1 gene and Ciliary Motility Disorders PMID 26139845 2015 Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

PMID 23993197 2013 Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

PMID 24568568 2014 Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.

PMID 24518672 2014 Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.