Variant: rs151332923 

    present in Gene: RPGRIP1L
    present in Chromosome: 16
    Position on Chromosome: 53605610
    Alleles of this Variant: G/A

rs151332923 in RPGRIP1L gene and MECKEL SYNDROME, TYPE 5 PMID 17558409 2007 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

PMID 21368913 2011 Clinical utility gene card for: Meckel syndrome.

PMID 19430481 2009 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.