TBC1D8B Chromosome X
TBC1 domain family member 8B
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What This Gene Does
This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
"EF-hand domain containing|GRAM domain containing"
Locus Type
gene with protein product
Location
Xq22.3
Ensembl
ENSG00000133138
Associated Conditions (3)
TBC1D8B-related disorder
Nephrotic syndrome
type 20
Key Variants
RS140106583
Conflicting classifications of pathogenicity
TBC1D8B-related disorder, TBC1D8B-related disorder
Health Risk
RS143560463
Conflicting classifications of pathogenicity
TBC1D8B-related disorder, TBC1D8B-related disorder
Health Risk
RS146869270
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 20, Nephrotic syndrome
Health Risk
RS147571776
Conflicting classifications of pathogenicity
Health Risk
RS200064920
Conflicting classifications of pathogenicity
TBC1D8B-related disorder, TBC1D8B-related disorder
Health Risk
RS370734738
Conflicting classifications of pathogenicity
Health Risk
RS767096796
Conflicting classifications of pathogenicity
Health Risk
RS774509890
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 20, Nephrotic syndrome
Health Risk
RS776431738
Conflicting classifications of pathogenicity
Health Risk
RS1602413491
Likely pathogenic
Nephrotic syndrome, type 20, Nephrotic syndrome
Health Risk
RS761410195
Likely pathogenic
Nephrotic syndrome, type 20, Nephrotic syndrome
Health Risk
RS775623397
Likely pathogenic
Nephrotic syndrome, type 20, Nephrotic syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140106583 | Health Risk | Conflicting classifications of pathogenicity | TBC1D8B-related disorder, TBC1D8B-related disorder |
| RS143560463 | Health Risk | Conflicting classifications of pathogenicity | TBC1D8B-related disorder, TBC1D8B-related disorder |
| RS146869270 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 20, Nephrotic syndrome |
| RS147571776 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200064920 | Health Risk | Conflicting classifications of pathogenicity | TBC1D8B-related disorder, TBC1D8B-related disorder |
| RS370734738 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767096796 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774509890 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 20, Nephrotic syndrome |
| RS776431738 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1602413491 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 20, Nephrotic syndrome |
| RS761410195 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 20, Nephrotic syndrome |
| RS775623397 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 20, Nephrotic syndrome |
| RS1363652416 | Health Risk | Pathogenic | Nephrotic syndrome, type 20, Nephrotic syndrome |
| RS748413985 | Health Risk | Pathogenic | Nephrotic syndrome, type 20, Nephrotic syndrome |
| RS772540800 | Health Risk | Pathogenic | Nephrotic syndrome, type 20, Nephrotic syndrome |