Overview
| Nucleotide ID | | c.1111_1142delinsT |
| | |
| Protein ID | | p.E371Wfs*49 |
| | |
| Mutation | | Deletion+Insertion |
| | |
| Type | | Type other |
| | |
| Class | | Class C (C1) |
| | |
| Category | | #NA |
| COSMIC | | COSV57137496 |
| | |
| Pathologie | | Essential thrombocythaemia |
Structure
# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935765137779999999999999999999999999999999999449999994399999
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHH
AA: AAEKQMKDKQDEEQRLKEEWQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREAC
10 20 30 40 50 60
Conf: 8202139
Pred: HHHHHCC
AA: LQGWTEA
References
| PMID | Citation |
|---|
| 25934766 | Al Assaf C, Van Obbergh F, Billiet J, et al. Analysis of phenotype and outcome in essential thrombocythemia with CALR or JAK2 mutations. Haematologica. 2015.100(7):893-897. doi:10.3324/haematol.2014.118299 |