present in Gene: IFT27
present in Chromosome: 22
Position on Chromosome: 36767790
Alleles of this Variant: T/C
rs1569077441 in
IFT27 gene and
Bardet-Biedl Syndrome
PMID 30761183 2019 Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.