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C10ORF126

Chr 10

chromosome 10 open reading frame 126

Also known as: bA492M23.1

NCBI Gene: 283080UniProt: Q8N4M7

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.81
LOEUF
—
Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/C10ORF126?content-type=application/json

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?
1.81LOEUF
pLI 0.002
Z-score 0.10
OE 0.95 (0.46–1.81)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.90Z-score
OE missense 0.72 (0.59–0.90)
60 obs / 83.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.95 (0.46–1.81)
0≤0.351.4
Missense OE?0.72 (0.59–0.90)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 4 / 4.2Missense obs/exp: 60 / 83.0Syn Z: 0.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C10ORF126 · 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