CCDC154

Chr 16

coiled-coil domain containing 154

Also known as: C16orf29

NCBI Gene: 645811ENSG00000197599UniProt: A6NI56OMIM: 618740

Predicted to be involved in bone mineralization involved in bone maturation. Predicted to act upstream of or within bone resorption; odontogenesis of dentin-containing tooth; and sensory perception of sound. Predicted to be located in early endosome. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.15
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.15LOEUF
pLI 0.000
Z-score 0.86
OE 0.84 (0.62–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.52Z-score
OE missense 0.93 (0.85–1.01)
359 obs / 387.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.84 (0.62–1.15)
0≤0.351.4
Missense OE?0.93 (0.85–1.01)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 28 / 33.4Missense obs/exp: 359 / 387.7Syn Z: -0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCDC154 · 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