rs1179402804

This variant is located in the TUBB gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Complex cortical dysplasia with other brain malformations 6

About TUBB

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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