present in Gene: PRPF40B;FAM186B
present in Chromosome: 12
Position on Chromosome: 49601136
Alleles of this Variant: T/C
rs549662742 in
PRPF40B;FAM186B gene and
Nephronophthisis
PMID 26489029 2016 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.