present in Gene: SRC
present in Chromosome: 20
Position on Chromosome: 37403347
Alleles of this Variant: G/A
rs879255268 in
SRC gene and
THROMBOCYTOPENIA 6
PMID 26936507 2016 A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.