CFAP206

Chr 6

cilia and flagella associated protein 206

Also known as: C6orf165, SPGF102, dJ382I10.1

NCBI Gene: 154313ENSG00000272514UniProt: Q8IYR0

Involved in sperm axoneme assembly. Predicted to be located in A axonemal microtubule and motile cilium. Predicted to be part of radial spoke. Predicted to be active in axoneme and ciliary basal body. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpermatogenic failure 102
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.14
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?
1.14LOEUF
pLI 0.000
Z-score 0.94
OE 0.82 (0.59–1.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.83Z-score
OE missense 0.87 (0.79–0.96)
291 obs / 333.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.82 (0.59–1.14)
0≤0.351.4
Missense OE?0.87 (0.79–0.96)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 25 / 30.6Missense obs/exp: 291 / 333.9Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CFAP206 · 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