LRRC71

Chr 1

leucine rich repeat containing 71

Also known as: C1orf92

NCBI Gene: 149499ENSG00000160838UniProt: Q8N4P6

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.78
LOEUF
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.78LOEUF
pLI 0.000
Z-score 2.46
OE 0.50 (0.33–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.65Z-score
OE missense 0.89 (0.81–0.99)
262 obs / 293.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.33–0.78)
0≤0.351.4
Missense OE?0.89 (0.81–0.99)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 14 / 28.1Missense obs/exp: 262 / 293.3Syn Z: 0.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LRRC71 · 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