Variant: rs138754417 

    present in Gene: MIR5683;F13A1
    present in Chromosome: 6
    Position on Chromosome: 6167589
    Alleles of this Variant: C/T

rs138754417 in MIR5683;F13A1 gene and Factor Xiii, A Subunit, Deficiency Of PMID 24889649 2014 Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function.

PMID 1353995 1992 Identification of a point mutation in factor XIII A subunit deficiency.

PMID 27363989 2016 Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action.

PMID 20179087 2010 Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.

PMID 24286209 2014 Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines.

PMID 24329762 2014 Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations.