RAB11B Chromosome 19
RAB11B, member RAS oncogene family
Upload your DNA to see your personal genotypes for variants in RAB11B.
What This Gene Does
The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994 [PubMed 7811277]).[supplied by OMIM, Nov 2010]
Gene Info
Gene Group
RAB, member RAS oncogene GTPases
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000185236
Associated Conditions (4)
Inborn genetic diseases
Neurodevelopmental disorder with ataxic gait
absent speech
and decreased cortical white matter
Key Variants
RS1299045693
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1971446308
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2512747986
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Health Risk
RS747256929
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS749841821
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Health Risk
RS749947672
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS868743721
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1288425927
Likely pathogenic
Health Risk
RS2512745114
Likely pathogenic
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Health Risk
RS1555690779
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Health Risk
RS1555690804
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1299045693 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1971446308 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2512747986 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter |
| RS747256929 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749841821 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter |
| RS749947672 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS868743721 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1288425927 | Health Risk | Likely pathogenic | — |
| RS2512745114 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter |
| RS1555690779 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter |
| RS1555690804 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter |