Variant: rs146249964 

    present in Gene: MPL
    present in Chromosome: 1
    Position on Chromosome: 43337929
    Alleles of this Variant: T/A

rs146249964 in MPL gene and Congenital amegakaryocytic thrombocytopenia PMID 21489838 2011 A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.

PMID 11133753 2001 c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.

PMID 16470591 2006 MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.

PMID 8073287 1994 Thrombocytopenia in c-mpl-deficient mice.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

rs146249964 in MPL gene and Thrombocythemia, Essential PMID 8073287 1994 Thrombocytopenia in c-mpl-deficient mice.

PMID 11133753 2001 c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.

rs146249964 in MPL gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.