CCZ1B

Chr 7

CCZ1B vacuolar protein trafficking and biogenesis associated

Also known as: C7orf28B, H_NH0577018.2

NCBI Gene: 221960ENSG00000146574UniProt: P86790

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in vacuolar transport and vesicle-mediated transport. Located in late endosome. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.29
LOEUF
—
Mechanism
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?
1.29LOEUF
pLI 0.000
Z-score 0.48
OE 0.89 (0.63–1.29)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.35Z-score
OE missense 0.93 (0.82–1.05)
178 obs / 191.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.89 (0.63–1.29)
0≤0.351.4
Missense OE?0.93 (0.82–1.05)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 20 / 22.5Missense obs/exp: 178 / 191.6Syn Z: 0.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCZ1B · 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