RAB28 Chromosome 4
RAB28, member RAS oncogene family
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What This Gene Does
This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009]
Gene Info
Gene Group
RAB, member RAS oncogene GTPases
Locus Type
gene with protein product
Location
4p15.33
Ensembl
ENSG00000157869
Associated Conditions (4)
Cone-rod dystrophy
Cone-rod dystrophy 18
Retinal dystrophy
Cone dystrophy
Key Variants
RS1715552187
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Cone-rod dystrophy
Health Risk
RS748297852
Conflicting classifications of pathogenicity
Cone-rod dystrophy 18, Cone-rod dystrophy 18
Health Risk
RS1328767121
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1560141393
Likely pathogenic
Cone-rod dystrophy 18, Cone-rod dystrophy 18
Health Risk
RS2108982050
Likely pathogenic
Health Risk
RS2474592669
Likely pathogenic
Cone dystrophy, Cone dystrophy
Health Risk
RS766054897
Likely pathogenic
Health Risk
RS1232968072
Pathogenic
Health Risk
RS1716511604
Pathogenic
Health Risk
RS2108977238
Pathogenic
Health Risk
RS2474391553
Pathogenic
Health Risk
RS2474572635
Pathogenic
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1715552187 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, Cone-rod dystrophy |
| RS748297852 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 18, Cone-rod dystrophy 18 |
| RS1328767121 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1560141393 | Health Risk | Likely pathogenic | Cone-rod dystrophy 18, Cone-rod dystrophy 18 |
| RS2108982050 | Health Risk | Likely pathogenic | — |
| RS2474592669 | Health Risk | Likely pathogenic | Cone dystrophy, Cone dystrophy |
| RS766054897 | Health Risk | Likely pathogenic | — |
| RS1232968072 | Health Risk | Pathogenic | — |
| RS1716511604 | Health Risk | Pathogenic | — |
| RS2108977238 | Health Risk | Pathogenic | — |
| RS2474391553 | Health Risk | Pathogenic | — |
| RS2474572635 | Health Risk | Pathogenic | — |
| RS372774679 | Health Risk | Pathogenic | — |
| RS398123044 | Health Risk | Pathogenic | Cone-rod dystrophy 18, Cone-rod dystrophy, Cone-rod dystrophy 18 |
| RS764474764 | Health Risk | Pathogenic | — |
| RS772157574 | Health Risk | Pathogenic | — |
| RS786200944 | Health Risk | Pathogenic | Cone-rod dystrophy 18, Retinal dystrophy, Cone-rod dystrophy 18 |
| RS875989778 | Health Risk | Pathogenic | Cone-rod dystrophy 18, Cone-rod dystrophy 18 |
| RS751163782 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 18, Cone-rod dystrophy 18 |