Variant: rs1085307074

present in Gene: IFT140;LOC105371046 present in Chromosome: 16 Position on Chromosome: 1584409 Alleles of this Variant: C/-

rs1085307074 in IFT140;LOC105371046 gene and Mainzer-Saldino Disease PMID 23418020 2013 Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.