present in Gene: BBS4
present in Chromosome: 15
Position on Chromosome: 72695229
Alleles of this Variant: G/A;T
rs1465437164 in
BBS4 gene and
Bardet-Biedl Syndrome
PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.