GOLGA8H

Chr 15

golgin A8 family member H

Also known as: GOLGA6L11

NCBI Gene: 728498ENSG00000261794UniProt: P0CJ92

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

146
ClinVar variants
115
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— GOLGA8H
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
115 Pathogenic / Likely Pathogenic· 24 VUS of 146 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.98LOEUF
pLI 0.000
Z-score -3.91
OE 1.90 (1.42–1.98)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-4.78Z-score
OE missense 2.00 (1.80–1.99)
364 obs / 182.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.90 (1.42–1.98)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.2.00 (1.80–1.99)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.68
0≤1.21.6
LoF obs/exp: 42 / 22.1Missense obs/exp: 364 / 182.3Syn Z: -4.48

ClinVar Variant Classifications

146 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic112
Likely Pathogenic3
VUS24
Likely Benign2
Conflicting4
112
Pathogenic
3
Likely Pathogenic
24
VUS
2
Likely Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————112
Likely Pathogenic
————3
VUS
————24
Likely Benign
————2
Benign
————0
Conflicting
—4
Total—145

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GOLGA8H · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for GOLGA8H

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools