GOLGA8Q

Chr 15

golgin A8 family member Q

NCBI Gene: 727909ENSG00000178115UniProt: H3BV12

Predicted to be involved in Golgi organization. Predicted to be located in Golgi apparatus. Predicted to be active in Golgi cis cisterna; Golgi cisterna membrane; and cis-Golgi network. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.57
LOEUF
Multiple*
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?
1.57LOEUF
pLI 0.001
Z-score 0.54
OE 0.77 (0.40–1.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.26Z-score
OE missense 1.55 (1.27–1.87)
65 obs / 42.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.77 (0.40–1.57)
0≤0.351.4
Missense OE?1.55 (1.27–1.87)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 5 / 6.5Missense obs/exp: 65 / 42.0Syn Z: -0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GOLGA8Q · 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