TTC24

Chr 1

tetratricopeptide repeat domain 24

NCBI Gene: 164118ENSG00000187862UniProt: A2A3L6

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.96
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.000
Z-score 1.73
OE 0.63 (0.43–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.93Z-score
OE missense 0.85 (0.77–0.94)
263 obs / 309.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.43–0.96)
0≤0.351.4
Missense OE?0.85 (0.77–0.94)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 16 / 25.4Missense obs/exp: 263 / 309.1Syn Z: 0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TTC24 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients