IFT57 Chromosome 3
Intraflagellar transport 57
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What This Gene Does
Predicted to enable DNA binding activity. Acts upstream of or within apoptotic process and regulation of apoptotic process. Located in ciliary base and photoreceptor connecting cilium. Part of intraciliary transport particle B. Implicated in orofaciodigital syndrome XVIII. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
IFT-B2 complex
Locus Type
gene with protein product
Location
3q13.12-q13.13
Ensembl
ENSG00000114446
Associated Conditions (1)
Orofaciodigital syndrome 18
Key Variants
RS144087221
Conflicting classifications of pathogenicity
Health Risk
RS2472180029
Conflicting classifications of pathogenicity
Health Risk
RS1560127636
Likely pathogenic
Orofaciodigital syndrome 18, Orofaciodigital syndrome 18
Health Risk
RS1553741312
Pathogenic
Orofaciodigital syndrome 18, Orofaciodigital syndrome 18
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144087221 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2472180029 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1560127636 | Health Risk | Likely pathogenic | Orofaciodigital syndrome 18, Orofaciodigital syndrome 18 |
| RS1553741312 | Health Risk | Pathogenic | Orofaciodigital syndrome 18, Orofaciodigital syndrome 18 |