CCDC184

Chr 12

coiled-coil domain containing 184

Also known as: C12orf68

NCBI Gene: 387856ENSG00000177875UniProt: Q52MB2

Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.82
LOEUF
Multiple*
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?
1.82LOEUF
pLI 0.002
Z-score 0.06
OE 0.97 (0.46–1.82)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.04Z-score
OE missense 1.01 (0.87–1.18)
116 obs / 114.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.97 (0.46–1.82)
0≤0.351.4
Missense OE?1.01 (0.87–1.18)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 4 / 4.1Missense obs/exp: 116 / 114.9Syn Z: -0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCDC184 · 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