RAB18 Chromosome 10
RAB18, member RAS oncogene family
Upload your DNA to see your personal genotypes for variants in RAB18.
What This Gene Does
The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
RAB, member RAS oncogene GTPases
Locus Type
gene with protein product
Location
10p12.1
Ensembl
ENSG00000099246
Associated Conditions (3)
Inborn genetic diseases
Warburg micro syndrome 3
RAB18-related disorder
Key Variants
RS148786103
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS569311945
Conflicting classifications of pathogenicity
Warburg micro syndrome 3, Warburg micro syndrome 3
Health Risk
RS61757825
Conflicting classifications of pathogenicity
Warburg micro syndrome 3, RAB18-related disorder, Warburg micro syndrome 3
Health Risk
RS750259620
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1834935337
Likely pathogenic
Health Risk
RS1261639905
Pathogenic
Health Risk
RS387906832
Pathogenic
Warburg micro syndrome 3, Warburg micro syndrome 3
Health Risk
RS387906833
Pathogenic
Warburg micro syndrome 3, Warburg micro syndrome 3
Health Risk
RS587776875
Pathogenic
Warburg micro syndrome 3, Warburg micro syndrome 3
Health Risk
RS587777151
Pathogenic
Warburg micro syndrome 3, Warburg micro syndrome 3
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148786103 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS569311945 | Health Risk | Conflicting classifications of pathogenicity | Warburg micro syndrome 3, Warburg micro syndrome 3 |
| RS61757825 | Health Risk | Conflicting classifications of pathogenicity | Warburg micro syndrome 3, RAB18-related disorder, Warburg micro syndrome 3 |
| RS750259620 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1834935337 | Health Risk | Likely pathogenic | — |
| RS1261639905 | Health Risk | Pathogenic | — |
| RS387906832 | Health Risk | Pathogenic | Warburg micro syndrome 3, Warburg micro syndrome 3 |
| RS387906833 | Health Risk | Pathogenic | Warburg micro syndrome 3, Warburg micro syndrome 3 |
| RS587776875 | Health Risk | Pathogenic | Warburg micro syndrome 3, Warburg micro syndrome 3 |
| RS587777151 | Health Risk | Pathogenic | Warburg micro syndrome 3, Warburg micro syndrome 3 |