Overview



Nucleotide ID c.1126_1148del
Protein ID p.R376Gfs*5
Mutation Deletion
Type Type other
Class Class D
Category #NA
COSMIC COSV57137857
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 9357751278899999999987557899


Pred: CHHHHHHHHHHHHHHHHHHHHHHCCCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKGQGG


              10        20

References

PMIDCitation
27855276Usseglio F, Beaufils N, Calleja A, Raynaud S, Gabert J. Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia. J Mol Diagn. 2017.19(1):92-98. doi:10.1016/j.jmoldx.2016.08.006