Overview



Nucleotide ID c.1127_1132delinsTTTGC
Protein ID p.R376Lfs*54
Mutation Deletion+Insertion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV57116946
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765017789999999999999999999999999999999999999999999943999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKLCRRRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPA


              10        20        30        40        50        60


Conf: 99832999998202129


Pred: CCCCCHHHHHHHHHHCC


  AA: RPRTSCREACLQGWTEA


              70

References

PMIDCitation
26071474Lin Y, Liu E, Sun Q, et al. The Prevalence of JAK2, MPL, and CALR Mutations in Chinese Patients With BCR-ABL1-Negative Myeloproliferative Neoplasms. Am J Clin Pathol. 2015.144(1):165-171. doi:10.1309/AJCPALP51XDIXDDV
29411299Diep R, Metjian A. A rare CALR variant mutation and a review of CALR in essential thrombocythemia. J Thromb Thrombolysis. 2018.45(3):457-462. doi:10.1007/s11239-018-1619-0