TUBB2A Chromosome 6
Tubulin beta 2A class IIa
Upload your DNA to see your personal genotypes for variants in TUBB2A.
What This Gene Does
Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
Tubulin beta family
Locus Type
gene with protein product
Location
6p25.2
Ensembl
ENSG00000137267
Associated Conditions (10)
Complex cortical dysplasia with other brain malformations 5
See cases
Inborn genetic diseases
TUBB2A-related tubulinopathy
Seizure
TUBB2A-related disorder
Neurodevelopmental delay
Abnormal cerebral morphology
Congenital cerebellar hypoplasia
Tubulinopathy
Key Variants
RS1054331
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
Health Risk
RS1057521250
Conflicting classifications of pathogenicity
See cases, Complex cortical dysplasia with other brain malformations 5, See cases
Health Risk
RS1215339340
Conflicting classifications of pathogenicity
Health Risk
RS1554122907
Conflicting classifications of pathogenicity
Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 5, Inborn genetic diseases
Health Risk
RS1554122911
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
Health Risk
RS1554122947
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
Health Risk
RS1581499166
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
Health Risk
RS2533523946
Conflicting classifications of pathogenicity
Health Risk
RS2533524160
Conflicting classifications of pathogenicity
Health Risk
RS2533524211
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
Health Risk
RS2533524826
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 5, TUBB2A-related tubulinopathy, Complex cortical dysplasia with other brain malformations 5
Health Risk
RS2808001
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 5, Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 5
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1054331 | Health Risk | Conflicting classifications of pathogenicity | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS1057521250 | Health Risk | Conflicting classifications of pathogenicity | See cases, Complex cortical dysplasia with other brain malformations 5, See cases |
| RS1215339340 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1554122907 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 5, Inborn genetic diseases |
| RS1554122911 | Health Risk | Conflicting classifications of pathogenicity | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS1554122947 | Health Risk | Conflicting classifications of pathogenicity | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS1581499166 | Health Risk | Conflicting classifications of pathogenicity | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS2533523946 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2533524160 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2533524211 | Health Risk | Conflicting classifications of pathogenicity | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS2533524826 | Health Risk | Conflicting classifications of pathogenicity | Complex cortical dysplasia with other brain malformations 5, TUBB2A-related tubulinopathy, Complex cortical dysplasia with other brain malformations 5 |
| RS2808001 | Health Risk | Conflicting classifications of pathogenicity | Complex cortical dysplasia with other brain malformations 5, Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 5 |
| RS863224939 | Health Risk | Conflicting classifications of pathogenicity | Complex cortical dysplasia with other brain malformations 5, Seizure, TUBB2A-related disorder |
| RS1057518044 | Health Risk | Likely pathogenic | — |
| RS1057521918 | Health Risk | Likely pathogenic | — |
| RS1554122948 | Health Risk | Likely pathogenic | — |
| RS1561805651 | Health Risk | Likely pathogenic | — |
| RS1581496351 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS1762591034 | Health Risk | Likely pathogenic | — |
| RS1762593142 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS1762595316 | Health Risk | Likely pathogenic | — |
| RS1762626709 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS2113785063 | Health Risk | Likely pathogenic | — |
| RS2113785077 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS2113785156 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS2113785529 | Health Risk | Likely pathogenic | — |
| RS2113785613 | Health Risk | Likely pathogenic | — |
| RS2113785712 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2533525210 | Health Risk | Likely pathogenic | — |
| RS1762604801 | Health Risk | Pathogenic | — |
| RS2113785083 | Health Risk | Pathogenic | Abnormal cerebral morphology, Abnormal cerebral morphology |
| RS2113785178 | Health Risk | Pathogenic | — |
| RS2113785454 | Health Risk | Pathogenic | — |
| RS2113785705 | Health Risk | Pathogenic | — |
| RS2533523463 | Health Risk | Pathogenic | — |
| RS2533524412 | Health Risk | Pathogenic | — |
| RS886037663 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 5, Congenital cerebellar hypoplasia, Complex cortical dysplasia with other brain malformations 5 |
| RS1064795249 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS1064795334 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 5, Tubulinopathy, Complex cortical dysplasia with other brain malformations 5 |
| RS1554122959 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS2533524352 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS2533524634 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS797046074 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 5, TUBB2A-related tubulinopathy, Complex cortical dysplasia with other brain malformations 5 |