IFT56 Chromosome 7
Intraflagellar transport 56
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What This Gene Does
Predicted to enable intraciliary transport particle B binding activity. Involved in cilium assembly. Located in cilium. Part of intraciliary transport particle B. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|IFT-B1 complex"
Locus Type
gene with protein product
Location
7q34
Ensembl
ENSG00000105948
Associated Conditions (6)
Biliary
renal
neurologic
and skeletal syndrome
Caroli disease
Hydrocephalus
Key Variants
RS200364043
Conflicting classifications of pathogenicity
Health Risk
RS1486636299
Likely pathogenic
Biliary, renal, neurologic
Health Risk
RS1794039778
Likely pathogenic
Caroli disease, Biliary, renal
Health Risk
RS2130872867
Pathogenic
Biliary, renal, neurologic
Health Risk
RS2130770516
Pathogenic/Likely pathogenic
Biliary, renal, neurologic
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200364043 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1486636299 | Health Risk | Likely pathogenic | Biliary, renal, neurologic |
| RS1794039778 | Health Risk | Likely pathogenic | Caroli disease, Biliary, renal |
| RS2130872867 | Health Risk | Pathogenic | Biliary, renal, neurologic |
| RS2130770516 | Health Risk | Pathogenic/Likely pathogenic | Biliary, renal, neurologic |