CNNM1

Chr 10

cyclin and CBS domain divalent metal cation transport mediator 1

Also known as: ACDP1, CLP-1, SLC70A1

NCBI Gene: 26507ENSG00000119946UniProt: Q9NRU3OMIM: 607802

This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

OMIMResearchGenerating 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
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.52
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.018
Z-score 3.61
OE 0.30 (0.18–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.74Z-score
OE missense 0.66 (0.60–0.72)
334 obs / 508.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.30 (0.18–0.52)
0≤0.351.4
Missense OE?0.66 (0.60–0.72)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 9 / 30.5Missense obs/exp: 334 / 508.1Syn Z: 1.57

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

CNNM1 · 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