IFT70A
Chr 2intraflagellar transport 70A
Also known as: CFAP259, FAP259, TTC30A, TTC30B
Predicted to enable intraciliary transport particle B binding activity. Predicted to be involved in intraciliary transport. Predicted to be located in centrosome. Predicted to be part of intraciliary transport particle B. Predicted to be active in axonemal microtubule. [provided by Alliance of Genome Resources, Jul 2025]
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
92 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 | 0 | 0 | 0 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 85 | 0 | 0 | 85 |
Likely Benign | 0 | 7 | 0 | 0 | 7 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 92 | 0 | 0 | 92 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →28 pathogenic / likely-pathogenic (of 32) ClinVar copy-number / structural variants overlap IFT70A — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
IFT70A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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