Variant: rs121918555

present in Gene: TUBB1 present in Chromosome: 20 Position on Chromosome: 59024379 Alleles of this Variant: C/T

rs121918555 in TUBB1 gene and Macrothrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs121918555 in TUBB1 gene and Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related PMID 18849486 2009 Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.