TTBK2 Chromosome 15
Tau tubulin kinase 2
Upload your DNA to see your personal genotypes for variants in TTBK2.
What This Gene Does
This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]
Associated Conditions (4)
Spinocerebellar ataxia type 11
Inborn genetic diseases
TTBK2-related disorder
Spastic ataxia
Key Variants
RS117382379
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 11, Inborn genetic diseases, Spinocerebellar ataxia type 11
Health Risk
RS144199562
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 11, TTBK2-related disorder, Inborn genetic diseases
Health Risk
RS146279300
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 11, TTBK2-related disorder, Spinocerebellar ataxia type 11
Health Risk
RS146515654
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 11, Inborn genetic diseases, Spinocerebellar ataxia type 11
Health Risk
RS199635198
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
Health Risk
RS200010694
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200124857
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 11, Inborn genetic diseases, TTBK2-related disorder
Health Risk
RS200125366
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 11, Spastic ataxia, Inborn genetic diseases
Health Risk
RS200821440
Conflicting classifications of pathogenicity
Health Risk
RS201633321
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202237707
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2140986045
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117382379 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Inborn genetic diseases, Spinocerebellar ataxia type 11 |
| RS144199562 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, TTBK2-related disorder, Inborn genetic diseases |
| RS146279300 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, TTBK2-related disorder, Spinocerebellar ataxia type 11 |
| RS146515654 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Inborn genetic diseases, Spinocerebellar ataxia type 11 |
| RS199635198 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |
| RS200010694 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200124857 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Inborn genetic diseases, TTBK2-related disorder |
| RS200125366 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Spastic ataxia, Inborn genetic diseases |
| RS200821440 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201633321 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202237707 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2140986045 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |
| RS36104367 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |
| RS368815985 | Health Risk | Conflicting classifications of pathogenicity | TTBK2-related disorder, Inborn genetic diseases, TTBK2-related disorder |
| RS369045579 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370495535 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |
| RS371070916 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371538715 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373500080 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375070421 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS527763642 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TTBK2-related disorder, Inborn genetic diseases |
| RS55833708 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Inborn genetic diseases, Spinocerebellar ataxia type 11 |
| RS56039839 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |
| RS576737530 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Inborn genetic diseases, Spinocerebellar ataxia type 11 |
| RS747277579 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752400040 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760323338 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764753481 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |
| RS767042342 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776776204 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781080005 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |
| RS908445283 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS911630565 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2140757755 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |
| RS770444240 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |
| RS778218227 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |
| RS2061886135 | Health Risk | Pathogenic | — |
| RS2140591830 | Health Risk | Pathogenic | — |
| RS2140770415 | Health Risk | Pathogenic | — |
| RS318240735 | Health Risk | Pathogenic | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |
| RS80356538 | Health Risk | Pathogenic | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |
| RS80356539 | Health Risk | Pathogenic | Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11 |