AXDND1

Chr 1

axonemal dynein light chain domain containing 1

Also known as: C1orf125

NCBI Gene: 126859ENSG00000162779UniProt: Q5T1B0

Predicted to be involved in manchette assembly. Predicted to act upstream of or within several processes, including axoneme assembly; male gonad development; and spermatogonial cell division. Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.99
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?
0.99LOEUF
pLI 0.000
Z-score 1.61
OE 0.78 (0.61–0.99)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.30Z-score
OE missense 1.04 (0.96–1.12)
516 obs / 497.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.78 (0.61–0.99)
0≤0.351.4
Missense OE?1.04 (0.96–1.12)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 47 / 60.5Missense obs/exp: 516 / 497.3Syn Z: 0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AXDND1 · 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