CFAP410

Chr 21

cilia and flagella associated protein 410

Also known as: C21orf2, LRRC76, RDMS, SMDAX, YF5/A2

NCBI Gene: 755ENSG00000160226UniProt: O43822

Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinal dystrophy with or without macular staphyloma
UniProtSpondylometaphyseal dysplasia, axial

Clinical highlights

Gene-disease validity (ClinGen)
amyotrophic lateral sclerosis · SDLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.40
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — CFAP410
Authoritative clinical overview · Recommended first read
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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?
1.40LOEUF
pLI 0.000
Z-score 0.52
OE 0.85 (0.53–1.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.16Z-score
OE missense 1.03 (0.93–1.15)
244 obs / 236.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.85 (0.53–1.40)
0≤0.351.4
Missense OE?1.03 (0.93–1.15)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 11 / 13.0Missense obs/exp: 244 / 236.9Syn Z: -0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CFAP410 · 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