LRRTM3

Chr 10

leucine rich repeat transmembrane neuronal 3

NCBI Gene: 347731ENSG00000198739UniProt: Q86VH5

Predicted to enable signaling receptor activity. Involved in regulation of presynapse assembly. Acts upstream of or within positive regulation of amyloid-beta formation. Is active in glutamatergic synapse. [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
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.31
LOEUF· LoF intol.
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.31LOEUF
pLI 0.975
Z-score 3.75
OE 0.10 (0.04–0.31)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.88Z-score
OE missense 0.70 (0.63–0.78)
219 obs / 312.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.10 (0.04–0.31)
0≤0.351.4
Missense OE?0.70 (0.63–0.78)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 2 / 20.2Missense obs/exp: 219 / 312.5Syn Z: -0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LRRTM3 · 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