Variant: rs397515340

present in Gene: MRPS18A;RSPH9 present in Chromosome: 6 Position on Chromosome: 43670918 Alleles of this Variant: GAA/-;GAAGAA

rs397515340 in MRPS18A;RSPH9 gene and Ciliary Motility Disorders PMID 22384920 2012 From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula.

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

PMID 19200523 2009 Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.