KIAA0408

Chr 6

KIAA0408

NCBI Gene: 9729ENSG00000189367UniProt: Q6ZU52

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.000
Z-score 2.39
OE 0.52 (0.35–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.08Z-score
OE missense 0.99 (0.91–1.08)
366 obs / 370.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.35–0.80)
0≤0.351.4
Missense OE?0.99 (0.91–1.08)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 15 / 28.9Missense obs/exp: 366 / 370.6Syn Z: -1.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KIAA0408 · 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