KBTBD11
Chr 8kelch repeat and BTB domain containing 11
Also known as: KLHDC7C
ResearchGenerating clinical summary…
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.062
Z-score 1.57
OE 0.39 (0.18–1.00)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.51Z-score
OE missense 0.90 (0.79–1.02)
171 obs / 190.7 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.39 (0.18–1.00)
0≤0.351.4
Missense OE?0.90 (0.79–1.02)
0≤0.61.4
Synonymous OE?1.34
0≤1.21.6
LoF obs/exp: 3 / 7.7Missense obs/exp: 171 / 190.7Syn Z: -2.60
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KBTBD11 · 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