Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Thrombophilia due to thrombin defect

OMIM:176930
Mode of inheritance:Autosomal dominant
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolF2
Reference transcriptNM_000506.3
DNA Changec.*97G>A
A.A. Change
Exon/Intron3' of the stop codon
Mutation Typesubstitution
ReferenceDanckwardt S, Hartmann K, Katz B, Hentze MW, Levy Y, Eichele R, Deutsch V, Kulozik AE, Ben-Tal O.The prothrombin 20209 C-->T mutation in Jewish-Moroccan Caucasians: molecular analysis of gain-of-function of 3 end processing.
J Thromb Haemost. 2006 May;4(5):1078-85.