MDN1
Chr 6midasin AAA ATPase 1
Also known as: Rea1
Predicted to enable ATP hydrolysis activity. Involved in ribosomal large subunit assembly. Located in nucleolus. [provided by Alliance of Genome Resources, Jun 2026]
ResearchGenerating clinical summary…
Clinical highlights
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.32
LOEUF· LoF intol.
DN
Mechanism· predicted
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.32LOEUF
pLI 0.000
Z-score 11.82
OE 0.26 (0.22–0.32)
Highly LoF-intolerant (top ~10% of genes)
Missense Constraint?
2.01Z-score
OE missense 0.90 (0.87–0.93)
2653 obs / 2960.5 exp
Moderately missense-constrained (top ~2.5%)
Observed / Expected Ratios?
LoF OE?0.26 (0.22–0.32)
0≤0.351.4
Missense OE?0.90 (0.87–0.93)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 78 / 298.3Missense obs/exp: 2653 / 2960.5Syn Z: 0.39
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MDN1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools