Variant: rs1567057019 

    present in Gene: KIF7;TICRR
    present in Chromosome: 15
    Position on Chromosome: 89629123
    Alleles of this Variant: C/G

rs1567057019 in KIF7;TICRR gene and Acrocallosal Syndrome PMID 21633164 2011 Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

PMID 21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

PMID 19666503 2009 Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling.

PMID 26648833 2015 Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.