Variant: rs387907345 

    present in Gene: ACTN1
    present in Chromosome: 14
    Position on Chromosome: 68921033
    Alleles of this Variant: C/T

rs387907345 in ACTN1 gene and Macrothrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.