Overview




Nucleotide ID c.1100_1136delinsGGAGGT
Protein ID p.L367Rfs*53
Mutation Deletion+Insertion
Type Type 1-like
Class Class A
Category #NA
COSMIC COSV57116831
Pathologie Essential thrombocythaemia


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 934765136449999999999999999999999999999999999349999995499999
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHH
  AA: AAEKQMKDKQDEEQRRRWRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREAC
              10        20        30        40        50        60
Conf: 8535139
Pred: HHHHHCC
  AA: LQGWTEA

References


PMIDCitation
26343915Riera L, Osella-Abate S, Benevolo G, et al. Novel CALR somatic mutations in essential thrombocythaemia. Br J Haematol. 2016.173(5):797-801. doi:10.1111/bjh.13638