C6ORF58

Chr 6

chromosome 6 open reading frame 58

Also known as: LEG1

NCBI Gene: 352999ENSG00000184530UniProt: Q6P5S2

Located in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.31
LOEUF
—
Mechanism
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?
1.31LOEUF
pLI 0.000
Z-score 0.60
OE 0.84 (0.55–1.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.19Z-score
OE missense 0.96 (0.84–1.09)
161 obs / 167.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.84 (0.55–1.31)
0≤0.351.4
Missense OE?0.96 (0.84–1.09)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 14 / 16.7Missense obs/exp: 161 / 167.8Syn Z: -0.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C6ORF58 · 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