RAB39B Chromosome X
RAB39B, member RAS oncogene family
Upload your DNA to see your personal genotypes for variants in RAB39B.
What This Gene Does
This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
RAB, member RAS oncogene GTPases
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000155961
Associated Conditions (9)
Intellectual disability
X-linked 72
Inborn genetic diseases
Early-onset parkinsonism-intellectual disability syndrome
RAB39B-related disorder
Neurodevelopmental disorder
Developmental disorder
Parkinson disease
X-linked dominant
Key Variants
RS181070478
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 72, Intellectual disability
Health Risk
RS377143859
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-onset parkinsonism-intellectual disability syndrome, RAB39B-related disorder
Health Risk
RS781919581
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 72, Intellectual disability
Health Risk
RS957747020
Conflicting classifications of pathogenicity
Health Risk
RS1569561107
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2124126312
Likely pathogenic
Developmental disorder, Developmental disorder
Health Risk
RS2124130091
Likely pathogenic
Intellectual disability, X-linked 72, Intellectual disability
Health Risk
RS1557314191
Pathogenic
Intellectual disability, X-linked 72, Intellectual disability
Health Risk
RS1557314544
Pathogenic
Health Risk
RS2524215565
Pathogenic
Health Risk
RS267606995
Pathogenic
Intellectual disability, X-linked 72, Intellectual disability
Health Risk
RS587776734
Pathogenic
Intellectual disability, X-linked 72, Intellectual disability
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS181070478 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 72, Intellectual disability |
| RS377143859 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-onset parkinsonism-intellectual disability syndrome, RAB39B-related disorder |
| RS781919581 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 72, Intellectual disability |
| RS957747020 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1569561107 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2124126312 | Health Risk | Likely pathogenic | Developmental disorder, Developmental disorder |
| RS2124130091 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 72, Intellectual disability |
| RS1557314191 | Health Risk | Pathogenic | Intellectual disability, X-linked 72, Intellectual disability |
| RS1557314544 | Health Risk | Pathogenic | — |
| RS2524215565 | Health Risk | Pathogenic | — |
| RS267606995 | Health Risk | Pathogenic | Intellectual disability, X-linked 72, Intellectual disability |
| RS587776734 | Health Risk | Pathogenic | Intellectual disability, X-linked 72, Intellectual disability |
| RS587777874 | Health Risk | Pathogenic | Early-onset parkinsonism-intellectual disability syndrome, Early-onset parkinsonism-intellectual disability syndrome |
| RS864309527 | Health Risk | Pathogenic | Parkinson disease, X-linked dominant, Early-onset parkinsonism-intellectual disability syndrome |