C10ORF62

Chr 10

chromosome 10 open reading frame 62

Also known as: bA548K23.1

NCBI Gene: 414157ENSG00000203942UniProt: Q5T681

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.92
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.92LOEUF
pLI 0.000
Z-score -0.85
OE 1.41 (0.76–1.92)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.14Z-score
OE missense 0.97 (0.83–1.12)
123 obs / 127.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.41 (0.76–1.92)
0≤0.351.4
Missense OE?0.97 (0.83–1.12)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 7 / 5.0Missense obs/exp: 123 / 127.3Syn Z: -0.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C10ORF62 · 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