TUBB1

tubulin beta 1 class VI

Summary

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]

Known Variants194 total

rsidPosition (GRCh37)AllelesClassClinVar
rs15007243420:57,594,490G/C—uncertain significance
rs76445152820:57,594,580G/A—uncertain significance
rs75429486320:57,594,581C/T—uncertain significance
rs141968600720:57,594,582G/C—uncertain significance
rs14528066520:57,594,590G/A—conflicting classifications of pathogenicity
rs20160389920:57,594,594A/G—conflicting classifications of pathogenicity
rs118459836920:57,594,596A/G—uncertain significance
rs74702949520:57,594,605G/C—uncertain significance
rs14687169020:57,594,609A/C—uncertain significance
rs76977825120:57,594,611T/A—uncertain significance
rs214637297620:57,594,614G/A—uncertain significance
rs127068043120:57,594,619C/G—uncertain significance
rs77757104320:57,594,626G/A—uncertain significance
rs37607339020:57,594,635G/A—likely pathogenic
rs77409489020:57,594,643T/C—likely benign
rs55399095120:57,594,644G/A—likely benign
rs251591358220:57,594,651T/A—likely benign
rs251591359020:57,594,653C/G—likely benign
rs18665831020:57,596,492C/Aregulatory region variant—
rs14115263520:57,597,451T/Gdownstream gene variant—
rs607069620:57,597,645G/A—benign
rs136170856620:57,597,898A/G—uncertain significance
rs37494282420:57,597,910T/C—uncertain significance
rs3550567020:57,597,926C/T—benign
rs20068544720:57,597,928G/A—uncertain significance
rs74667086320:57,597,947C/T—likely benign
rs76830157620:57,597,948G/A—uncertain significance
rs37567070920:57,597,952G/A—uncertain significance
rs15045315920:57,597,953C/T—benign
rs14433701120:57,597,954G/A—benign
rs37029205120:57,597,961C/T—uncertain significance
rs46331220:57,597,970C/A—benign
rs41506420:57,597,971G/Asynonymous variant—
rs251591582520:57,597,993T/C—uncertain significance
rs75035256720:57,597,994A/T—uncertain significance
rs131609445220:57,597,997A/T—uncertain significance
rs76169255820:57,598,007C/T—uncertain significance
rs78089113720:57,598,008G/A—uncertain significance
rs251591587620:57,598,009G/C—likely pathogenic
rs119607441620:57,598,010T/C—uncertain significance
rs36785287820:57,598,018G/T—likely benign
rs76927392020:57,598,019C/T—likely benign
rs37430373720:57,598,022G/C—conflicting classifications of pathogenicity
rs77459317020:57,598,024C/A—likely benign
rs96844249820:57,598,538T/C—conflicting classifications of pathogenicity
rs138634436420:57,598,548G/A—uncertain significance
rs3598978220:57,598,562A/C—uncertain significance
rs74934300020:57,598,563G/A—uncertain significance
rs75149020220:57,598,597G/A—uncertain significance
rs76738093520:57,598,607C/T—conflicting classifications of pathogenicity
rs57298863120:57,598,608G/A—conflicting classifications of pathogenicity
rs14181010220:57,598,639C/T—benign
rs15055180520:57,598,640G/A—uncertain significance
rs209197820120:57,598,651C/T—likely benign
rs37502539120:57,598,675T/C—likely benign
rs77539422920:57,598,752G/C—likely benign
rs144580402320:57,598,756A/G—likely benign
rs76472910920:57,598,771G/A—uncertain significance
rs160123856320:57,598,779C/A—likely pathogenic
rs101442051720:57,598,787C/T—uncertain significance
rs56070275720:57,598,800C/G—pathogenic
rs75207989420:57,598,801A/C—uncertain significance
rs75550398720:57,598,802C/T—uncertain significance
rs78170983520:57,598,803G/A—likely benign
rs4130389920:57,598,808G/A—conflicting classifications of pathogenicity
rs20093173120:57,598,822G/A—conflicting classifications of pathogenicity
rs142842216820:57,598,837G/C—uncertain significance
rs133587766620:57,598,846C/T—uncertain significance
rs3479304320:57,598,848C/T—likely benign
rs147089456620:57,598,854T/G—uncertain significance
rs86733407120:57,598,868G/A—uncertain significance
rs20217764720:57,598,870C/G—conflicting classifications of pathogenicity
rs251591680920:57,598,876G/C—uncertain significance
rs6175756520:57,598,878C/G—likely benign
rs19994801020:57,598,882C/T—conflicting classifications of pathogenicity
rs75317274920:57,598,887C/T—likely benign
rs75397807120:57,598,902C/G—likely benign
rs77897582720:57,598,903G/C—uncertain significance
rs76864648020:57,598,905G/A—likely benign
rs76944214520:57,598,917C/T—benign
rs37185212520:57,598,918G/A—conflicting classifications of pathogenicity
rs140318588520:57,598,919G/C—uncertain significance
rs251591687020:57,598,922T/C—uncertain significance
rs251591690520:57,598,955A/C—uncertain significance
rs75911791120:57,598,961C/T—uncertain significance
rs160123882220:57,598,965C/A—uncertain significance
rs14381933020:57,598,966C/T—uncertain significance
rs15108160920:57,598,967G/A—uncertain significance
rs76440020620:57,598,987G/A—uncertain significance
rs75417204920:57,598,990A/T—uncertain significance
rs76544030020:57,599,002A/C—uncertain significance
rs16377720:57,599,016T/G—likely benign
rs124584971120:57,599,022G/A—likely benign
rs251591701720:57,599,026C/T—uncertain significance
rs14684692320:57,599,036C/T—uncertain significance
rs122860366520:57,599,037G/C—likely benign
rs14169822120:57,599,060T/C—conflicting classifications of pathogenicity
rs20046927620:57,599,073T/A—uncertain significance
rs14703420220:57,599,074G/A—uncertain significance
rs126784678320:57,599,099C/T—uncertain significance

Showing 100 of 194 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.