Overview
Nucleotide ID | | c.1139del+c.1227_1228CC>GT |
| | |
Protein ID | | p.E380Gfs*50 |
| | |
Mutation | | Complex |
| | |
Type | | Type other |
| | |
Class | | Class D |
| | |
Category | | #NA |
COSMIC | | #NA |
| | |
Pathologie | | Essential thrombocythaemia |
Structure
# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935766237889999999999999999999999999999999999999999999996508
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHC
AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEGRQRTRRMMRTKMRMRRMRRTRRKMRRKMSSA
10 20 30 40 50 60
Conf: 99821999998545139
Pred: CCCCCHHHHHHHHHHCC
AA: RPRTSCREACLQGWTEA
70
References
PMID | Citation |
---|
34214802 | Lemoine S, Renard M, Bouvier A, et al. No detection of atypical one-base deletion of CALR exon 9 with fragment analysis: A molecular trap to avoid. Blood Cells Mol Dis. 2021.90:102589. doi:10.1016/j.bcmd.2021.102589 |