CCDC172

Chr 10

coiled-coil domain containing 172

ENSG00000182645UniProt: P0C7W6

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.09
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.09LOEUF
pLI 0.000
Z-score 1.33
OE 0.62 (0.38–1.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.06Z-score
OE missense 0.98 (0.85–1.15)
116 obs / 117.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.38–1.09)
0≤0.351.4
Missense OE?0.98 (0.85–1.15)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 9 / 14.4Missense obs/exp: 116 / 117.9Syn Z: 0.83

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

CCDC172 · 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