Variant: rs267607020 

    present in Gene: RPGRIP1L
    present in Chromosome: 16
    Position on Chromosome: 53652712
    Alleles of this Variant: A/G

rs267607020 in RPGRIP1L gene and COACH syndrome PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

PMID 21448235 2011 Clinical utility gene card for: Joubert syndrome.

rs267607020 in RPGRIP1L gene and JOUBERT SYNDROME 7 PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.