RALGDS
Chr 9ral guanine nucleotide dissociation stimulator
Also known as: RGDS, RGF, RalGEF
This protein functions as a guanine nucleotide exchange factor that activates RalA and RalB GTPases, playing important roles in intracellular transport and bacterial clearance through exocyst complex assembly. Pathogenic variants cause intellectual disability with seizures, hypotonia, and cerebellar atrophy, following an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to cause significant developmental effects.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
220 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 35 | 0 | 35 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 121 | 10 | 1 | 132 |
Likely Benign | 0 | 9 | 1 | 13 | 23 |
Benign | 0 | 1 | 0 | 12 | 13 |
| Total | 0 | 131 | 47 | 26 | 204 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RALGDS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools