Overview



Nucleotide ID c.1109_1145del
Protein ID p.E371Rfs*46
Mutation Deletion
Type Type other
Class Class C (C1)
Category Type 39
COSMIC #NA
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935764026779999999999999999999999999999999943999998329999982


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHH


  AA: AAEKQMKDKQDEEQRLKEERTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQ


              10        20        30        40        50        60


Conf: 03129


Pred: HHHCC


  AA: GWTEA

References

PMIDCitation
31626697Lee JS, Kim HY, Kim M, Lee YK. A Novel Pathogenic CALR Exon 9 Mutation in a Patient with Essential Thrombocythemia. Lab Med. 2020.51(3):306-309. doi:10.1093/labmed/lmz064