TUBB Chromosome 6
Tubulin beta class I
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What This Gene Does
This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
Tubulin beta family
Locus Type
gene with protein product
Location
6p21.33
Ensembl
ENSG00000196230
Associated Conditions (9)
Lissencephaly
Multiple benign circumferential skin creases on limbs 1
Seizure
Complex cortical dysplasia with other brain malformations 6
Inborn genetic diseases
Abnormal brain morphology
Ventriculomegaly
Hypoplasia of the corpus callosum
TUBB-related disorder
Key Variants
RS1554202416
Conflicting classifications of pathogenicity
Lissencephaly, Multiple benign circumferential skin creases on limbs 1, Seizure
Health Risk
RS1776395738
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2127749124
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6
Health Risk
RS2127749786
Conflicting classifications of pathogenicity
Abnormal brain morphology, Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 6
Health Risk
RS2536606774
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 6, Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 6
Health Risk
RS772730239
Conflicting classifications of pathogenicity
Multiple benign circumferential skin creases on limbs 1, Multiple benign circumferential skin creases on limbs 1
Health Risk
RS1057518412
Likely pathogenic
Health Risk
RS1057520046
Likely pathogenic
Health Risk
RS1057524718
Likely pathogenic
Health Risk
RS1059145
Likely pathogenic
Health Risk
RS1085307486
Likely pathogenic
Health Risk
RS1581668624
Likely pathogenic
Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554202416 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly, Multiple benign circumferential skin creases on limbs 1, Seizure |
| RS1776395738 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2127749124 | Health Risk | Conflicting classifications of pathogenicity | Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6 |
| RS2127749786 | Health Risk | Conflicting classifications of pathogenicity | Abnormal brain morphology, Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 6 |
| RS2536606774 | Health Risk | Conflicting classifications of pathogenicity | Complex cortical dysplasia with other brain malformations 6, Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 6 |
| RS772730239 | Health Risk | Conflicting classifications of pathogenicity | Multiple benign circumferential skin creases on limbs 1, Multiple benign circumferential skin creases on limbs 1 |
| RS1057518412 | Health Risk | Likely pathogenic | — |
| RS1057520046 | Health Risk | Likely pathogenic | — |
| RS1057524718 | Health Risk | Likely pathogenic | — |
| RS1059145 | Health Risk | Likely pathogenic | — |
| RS1085307486 | Health Risk | Likely pathogenic | — |
| RS1581668624 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6 |
| RS1776147010 | Health Risk | Likely pathogenic | Multiple benign circumferential skin creases on limbs 1, Multiple benign circumferential skin creases on limbs 1 |
| RS1776361528 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6 |
| RS1776430407 | Health Risk | Likely pathogenic | — |
| RS2127749078 | Health Risk | Likely pathogenic | Multiple benign circumferential skin creases on limbs 1, Complex cortical dysplasia with other brain malformations 6, Multiple benign circumferential skin creases on limbs 1 |
| RS2127749712 | Health Risk | Likely pathogenic | — |
| RS2127749740 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6 |
| RS2127749978 | Health Risk | Likely pathogenic | Ventriculomegaly, Hypoplasia of the corpus callosum, Ventriculomegaly |
| RS2536604435 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6 |
| RS2536608099 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6 |
| RS2536609405 | Health Risk | Likely pathogenic | — |
| RS1776478413 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6 |
| RS2536608888 | Health Risk | Pathogenic | — |
| RS587777355 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 6, Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 6 |
| RS587777357 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 6, Inborn genetic diseases, Multiple benign circumferential skin creases on limbs 1 |
| RS864321676 | Health Risk | Pathogenic | Multiple benign circumferential skin creases on limbs 1, Multiple benign circumferential skin creases on limbs 1 |
| RS864321677 | Health Risk | Pathogenic | Multiple benign circumferential skin creases on limbs 1, Multiple benign circumferential skin creases on limbs 1 |
| RS1776459285 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2536600951 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6 |
| RS587777356 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 6, TUBB-related disorder, Multiple benign circumferential skin creases on limbs 1 |
| RS878853162 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6 |