ATAD3C

Chr 1

ATPase family AAA domain containing 3C

NCBI Gene: 219293ENSG00000215915UniProt: Q5T2N8OMIM: 617227

Predicted to enable ATP binding activity and ATP hydrolysis activity. Predicted to be involved in mitochondrion organization. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.17
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.17LOEUF
pLI 0.000
Z-score 0.98
OE 0.76 (0.51–1.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.82Z-score
OE missense 1.14 (1.04–1.25)
302 obs / 264.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.76 (0.51–1.17)
0≤0.351.4
Missense OE?1.14 (1.04–1.25)
0≤0.61.4
Synonymous OE?1.17
0≤1.21.6
LoF obs/exp: 15 / 19.7Missense obs/exp: 302 / 264.7Syn Z: -1.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATAD3C · 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