C12ORF54

Chr 12

chromosome 12 open reading frame 54

Also known as: HSD-29, HSD-30

NCBI Gene: 121273ENSG00000177627UniProt: Q6X4T0

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.55
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?
1.55LOEUF
pLI 0.000
Z-score 0.17
OE 0.95 (0.59–1.55)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.08Z-score
OE missense 1.03 (0.85–1.25)
70 obs / 68.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.95 (0.59–1.55)
0≤0.351.4
Missense OE?1.03 (0.85–1.25)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 11 / 11.6Missense obs/exp: 70 / 68.2Syn Z: -0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C12ORF54 · 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