TUBB1 Chromosome 20
Tubulin beta 1 class VI
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What This Gene Does
This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Tubulin beta family
Locus Type
gene with protein product
Location
20q13.32
Ensembl
ENSG00000101162
Associated Conditions (10)
Macrothrombocytopenia
isolated
1
autosomal dominant
Thrombocytopenia
Abnormal bleeding
TUBB1-related disorder
Inborn genetic diseases
Congenital hypothyroidism
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Key Variants
RS121918555
Conflicting classifications of pathogenicity
Macrothrombocytopenia, isolated, 1
Health Risk
RS1300096139
Conflicting classifications of pathogenicity
Thrombocytopenia, Abnormal bleeding, Macrothrombocytopenia
Health Risk
RS140943896
Conflicting classifications of pathogenicity
Macrothrombocytopenia, isolated, 1
Health Risk
RS141698221
Conflicting classifications of pathogenicity
Macrothrombocytopenia, isolated, 1
Health Risk
RS145280665
Conflicting classifications of pathogenicity
Thrombocytopenia, Abnormal bleeding, Macrothrombocytopenia
Health Risk
RS145922879
Conflicting classifications of pathogenicity
TUBB1-related disorder, Macrothrombocytopenia, isolated
Health Risk
RS199948010
Conflicting classifications of pathogenicity
Macrothrombocytopenia, isolated, 1
Health Risk
RS200032740
Conflicting classifications of pathogenicity
Health Risk
RS200931731
Conflicting classifications of pathogenicity
TUBB1-related disorder, TUBB1-related disorder
Health Risk
RS201603899
Conflicting classifications of pathogenicity
Health Risk
RS202177647
Conflicting classifications of pathogenicity
Macrothrombocytopenia, isolated, 1
Health Risk
RS2091981798
Conflicting classifications of pathogenicity
Macrothrombocytopenia, isolated, 1
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918555 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, isolated, 1 |
| RS1300096139 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia, Abnormal bleeding, Macrothrombocytopenia |
| RS140943896 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, isolated, 1 |
| RS141698221 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, isolated, 1 |
| RS145280665 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia, Abnormal bleeding, Macrothrombocytopenia |
| RS145922879 | Health Risk | Conflicting classifications of pathogenicity | TUBB1-related disorder, Macrothrombocytopenia, isolated |
| RS199948010 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, isolated, 1 |
| RS200032740 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200931731 | Health Risk | Conflicting classifications of pathogenicity | TUBB1-related disorder, TUBB1-related disorder |
| RS201603899 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202177647 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, isolated, 1 |
| RS2091981798 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, isolated, 1 |
| RS2515915787 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, isolated, 1 |
| RS371852125 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, isolated, 1 |
| RS374303737 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS41303899 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia, Macrothrombocytopenia, isolated |
| RS572988631 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS62639975 | Health Risk | Conflicting classifications of pathogenicity | TUBB1-related disorder, TUBB1-related disorder |
| RS753979060 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767041023 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, isolated, 1 |
| RS767380935 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, isolated, 1 |
| RS770226644 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, isolated, 1 |
| RS773248042 | Health Risk | Conflicting classifications of pathogenicity | Congenital hypothyroidism, Macrothrombocytopenia, isolated |
| RS968442498 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, isolated, 1 |
| RS1601238563 | Health Risk | Likely pathogenic | Macrothrombocytopenia, Macrothrombocytopenia |
| RS1601239459 | Health Risk | Likely pathogenic | Thrombocytopenia, Thrombocytopenia |
| RS1601239696 | Health Risk | Likely pathogenic | Macrothrombocytopenia, Macrothrombocytopenia |
| RS2515915876 | Health Risk | Likely pathogenic | Macrothrombocytopenia, isolated, 1 |
| RS376073390 | Health Risk | Likely pathogenic | Macrothrombocytopenia, isolated, 1 |
| RS890185415 | Health Risk | Likely pathogenic | Macrothrombocytopenia, isolated, 1 |
| RS1293743818 | Health Risk | Pathogenic | Macrothrombocytopenia, isolated, 1 |
| RS2146377060 | Health Risk | Pathogenic | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS560702757 | Health Risk | Pathogenic | Congenital hypothyroidism, Congenital hypothyroidism |
| RS1057517996 | Health Risk | Pathogenic/Likely pathogenic | Macrothrombocytopenia, isolated, 1 |