TTC13
Chr 1tetratricopeptide repeat domain 13
ResearchGenerating clinical summary…
Clinical highlights
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.000
Z-score 4.34
OE 0.35 (0.24–0.52)
More LoF-intolerant than ~75% of genes
Missense Constraint?
2.55Z-score
OE missense 0.66 (0.59–0.72)
285 obs / 434.6 exp
Moderately missense-constrained (top ~2.5%)
Observed / Expected Ratios?
LoF OE?0.35 (0.24–0.52)
0≤0.351.4
Missense OE?0.66 (0.59–0.72)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 18 / 51.6Missense obs/exp: 285 / 434.6Syn Z: 0.67
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TTC13 · 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