IFT88
Chr 13intraflagellar transport 88
Also known as: D13S1056E, DAF19, TG737, TTC10, hTg737
The protein positively regulates primary cilium biogenesis and is involved in autophagy through trafficking of ATG16L and expansion of autophagic compartments. Mutations cause autosomal recessive ciliopathy syndromes including nephronophthisis and Bardet-Biedl syndrome, affecting the kidneys, retina, and other organ systems. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.708).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
300 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 2 | 0 | 2 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 17 | 166 | 18 | 2 | 203 |
Likely Benign | 0 | 3 | 46 | 40 | 89 |
Benign | 0 | 0 | 3 | 1 | 4 |
Conflicting | — | 2 | |||
| Total | 17 | 169 | 69 | 43 | 300 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
IFT88 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools