BBIP1 Chromosome 10
BBSome interacting protein 1
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What This Gene Does
This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
BBSome
Locus Type
gene with protein product
Location
10q25.2
Ensembl
ENSG00000214413
Associated Conditions (4)
BBIP1-related disorder
Bardet-Biedl syndrome 18
10 conditions
Bardet-Biedl syndrome 1
Key Variants
RS1049860215
Conflicting classifications of pathogenicity
BBIP1-related disorder, BBIP1-related disorder
Health Risk
RS11548767
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 18, Bardet-Biedl syndrome 18
Health Risk
RS201753066
Conflicting classifications of pathogenicity
BBIP1-related disorder, BBIP1-related disorder
Health Risk
RS912754275
Conflicting classifications of pathogenicity
BBIP1-related disorder, Bardet-Biedl syndrome 18, BBIP1-related disorder
Health Risk
RS1590746439
Pathogenic
10 conditions, 10 conditions
Health Risk
RS515726134
Pathogenic
Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 18, Bardet-Biedl syndrome 1
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1049860215 | Health Risk | Conflicting classifications of pathogenicity | BBIP1-related disorder, BBIP1-related disorder |
| RS11548767 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 18, Bardet-Biedl syndrome 18 |
| RS201753066 | Health Risk | Conflicting classifications of pathogenicity | BBIP1-related disorder, BBIP1-related disorder |
| RS912754275 | Health Risk | Conflicting classifications of pathogenicity | BBIP1-related disorder, Bardet-Biedl syndrome 18, BBIP1-related disorder |
| RS1590746439 | Health Risk | Pathogenic | 10 conditions, 10 conditions |
| RS515726134 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 18, Bardet-Biedl syndrome 1 |