LRRC73

Chr 6

leucine rich repeat containing 73

Also known as: C6orf154

NCBI Gene: 221424ENSG00000204052UniProt: Q5JTD7

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.81
LOEUF
GOF
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?
0.81LOEUF
pLI 0.049
Z-score 2.01
OE 0.35 (0.17–0.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.62Z-score
OE missense 0.67 (0.57–0.77)
124 obs / 186.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.35 (0.17–0.81)
0≤0.351.4
Missense OE?0.67 (0.57–0.77)
0≤0.61.4
Synonymous OE?1.20
0≤1.21.6
LoF obs/exp: 4 / 11.3Missense obs/exp: 124 / 186.2Syn Z: -1.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LRRC73 · 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