TUBB
tubulin beta class I
Summary
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]
Known Variants81 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9295910 | 6:30,687,714 | T/A | — | benign |
| rs17189357 | 6:30,688,067 | C/G | — | benign |
| rs864321676 | 6:30,688,326 | C/A | missense variant | pathogenic |
| rs1776147010 | 6:30,688,328 | G/C | — | likely pathogenic |
| rs3132584 | 6:30,688,427 | T/G | — | benign |
| rs3132583 | 6:30,688,575 | G/C | — | benign |
| rs3132582 | 6:30,689,001 | T/A | regulatory region variant | — |
| rs1776303588 | 6:30,689,740 | C/A | — | no classification for the single variant |
| rs369813241 | 6:30,689,747 | A/G | — | likely benign |
| rs149015532 | 6:30,690,013 | G/A | — | likely benign |
| rs143804865 | 6:30,690,101 | T/A | — | likely benign |
| rs148198842 | 6:30,690,169 | G/A | — | likely benign |
| rs75955575 | 6:30,690,265 | A/T | — | benign |
| rs371782349 | 6:30,690,305 | C/T | — | likely benign |
| rs1776361528 | 6:30,690,395 | A/G | — | likely pathogenic |
| rs2127747963 | 6:30,690,408 | A/G | — | uncertain significance |
| rs2536600951 | 6:30,690,411 | A/G | — | pathogenic |
| rs1776362492 | 6:30,690,417 | C/T | — | uncertain significance |
| rs17189364 | 6:30,690,635 | G/A | — | benign |
| rs2536603882 | 6:30,690,701 | A/G | — | uncertain significance |
| rs2536603917 | 6:30,690,704 | A/G | — | uncertain significance |
| rs1776395738 | 6:30,690,757 | C/T | — | conflicting classifications of pathogenicity |
| rs1776397001 | 6:30,690,772 | G/C | — | uncertain significance |
| rs2536604435 | 6:30,690,788 | C/T | — | likely pathogenic |
| rs1179402804 | 6:30,690,794 | A/C | — | uncertain significance |
| rs25526 | 6:30,690,816 | C/T | — | benign |
| rs25527 | 6:30,690,938 | C/T | — | benign |
| rs2127749060 | 6:30,691,138 | A/G | — | uncertain significance |
| rs2127749078 | 6:30,691,155 | T/G | — | likely pathogenic |
| rs1057518412 | 6:30,691,161 | G/A | missense variant | pathogenic |
| rs2536606774 | 6:30,691,170 | G/A | — | conflicting classifications of pathogenicity |
| rs2127749124 | 6:30,691,191 | G/T | — | conflicting classifications of pathogenicity |
| rs772730239 | 6:30,691,200 | C/T | — | conflicting classifications of pathogenicity |
| rs1776430407 | 6:30,691,263 | G/T | — | likely pathogenic |
| rs2536607260 | 6:30,691,282 | G/C | — | uncertain significance |
| rs1581668624 | 6:30,691,287 | C/T | — | likely pathogenic |
| rs1208752776 | 6:30,691,305 | C/T | — | uncertain significance |
| rs2536607423 | 6:30,691,323 | C/T | — | uncertain significance |
| rs2536607462 | 6:30,691,345 | T/C | — | uncertain significance |
| rs1057520046 | 6:30,691,372 | C/G | missense variant | pathogenic |
| rs1776436779 | 6:30,691,399 | T/A | — | uncertain significance |
| rs1776439193 | 6:30,691,438 | A/G | — | uncertain significance |
| rs1059145 | 6:30,691,486 | A/G | — | likely pathogenic |
| rs25497 | 6:30,691,490 | G/A | — | benign |
| rs878853162 | 6:30,691,501 | C/T | missense variant | pathogenic |
| rs864321677 | 6:30,691,504 | A/T | missense variant | pathogenic |
| rs11546736 | 6:30,691,505 | C/T | — | benign |
| rs2536608099 | 6:30,691,509 | G/T | — | likely pathogenic |
| rs1057524718 | 6:30,691,521 | C/G | — | likely pathogenic |
| rs2127749496 | 6:30,691,549 | C/G | — | uncertain significance |
| rs1250107611 | 6:30,691,557 | C/A | — | uncertain significance |
| rs2536608548 | 6:30,691,640 | G/T | — | uncertain significance |
| rs2127749601 | 6:30,691,669 | G/A | — | uncertain significance |
| rs1554202407 | 6:30,691,684 | G/A | — | uncertain significance |
| rs2536608888 | 6:30,691,698 | C/T | — | pathogenic |
| rs1554202416 | 6:30,691,699 | C/T | — | conflicting classifications of pathogenicity |
| rs2127749657 | 6:30,691,712 | G/T | — | uncertain significance |
| rs587777355 | 6:30,691,734 | A/G | missense variant | pathogenic |
| rs2127749712 | 6:30,691,736 | G/A | — | likely pathogenic |
| rs2127749740 | 6:30,691,756 | G/C | — | likely pathogenic |
| rs2127749786 | 6:30,691,800 | A/G | — | conflicting classifications of pathogenicity |
| rs2536609405 | 6:30,691,807 | T/C | — | likely pathogenic |
| rs1776459285 | 6:30,691,818 | G/A | — | pathogenic |
| rs2536609520 | 6:30,691,827 | A/G | — | uncertain significance |
| rs2536609757 | 6:30,691,884 | G/A | — | uncertain significance |
| rs587777356 | 6:30,691,896 | G/A | missense variant | pathogenic |
| rs2127749978 | 6:30,691,920 | C/T | — | likely pathogenic |
| rs2536610290 | 6:30,691,995 | A/G | — | uncertain significance |
| rs2127750063 | 6:30,691,996 | C/T | — | uncertain significance |
| rs2394398 | 6:30,692,007 | C/T | — | uncertain significance |
| rs2536610483 | 6:30,692,037 | G/C | — | uncertain significance |
| rs139901632 | 6:30,692,039 | C/T | — | likely benign |
| rs587777357 | 6:30,692,040 | G/A | missense variant | pathogenic |
| rs1085307486 | 6:30,692,069 | G/T | missense variant | pathogenic |
| rs200599590 | 6:30,692,096 | C/G | — | likely benign |
| rs1776478413 | 6:30,692,100 | G/A | — | pathogenic |
| rs746439917 | 6:30,692,141 | G/T | — | uncertain significance |
| rs760014512 | 6:30,692,148 | G/A | — | likely benign |
| rs9468815 | 6:30,692,230 | G/T | — | benign |
| rs9468816 | 6:30,692,231 | C/T | — | benign |
| rs7781 | 6:30,693,121 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.