CALR c.1099_1132del ;(p.L367Rfs*52)

Variant ID: 19-13054570-GGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAA-G

NM_004343.3(CALR):c.1099_1132del;(p.L367Rfs*52)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Myeloproliferative neoplasm-driving Calr frameshift promotes the development of pulmonary hypertension in mice.

Journal Of Hematology & Oncology
Minakawa, Keiji K; Yokokawa, Tetsuro T; Ueda, Koki K; Nakajima, Osamu O; Misaka, Tomofumi T; Kimishima, Yusuke Y; Wada, Kento K; Tomita, Yusuke Y; Miura, Saori S; Sato, Yuka Y; Mimura, Kosaku K; Sugimoto, Koichi K; Nakazato, Kazuhiko K; Nollet, Kenneth E KE; Ogawa, Kazuei K; Ikezoe, Takayuki T; Hashimoto, Yuko Y; Takeishi, Yasuchika Y; Ikeda, Kazuhiko K
Publication Date: 2021-03-30

Variant appearance in text: CALR: 1099_1132del; L367Rfs*52
PubMed Link: 33785036
Variant Present in the following documents:
  • 13045_2021_1064_MOESM7_ESM.pdf
View BVdb publication page



Two Novel Monoallelic Calreticulin Mutations in a Patient With Essential Thrombocythemia.

Journal Of Hematology
Kamory, Eniko E; Schmidt, Thomas T; Broquere, Cedric C; Peters, Hartmut H; Hocher, Berthold B
Publication Date: 2017-10

Variant appearance in text: CALR: 1098_1131del
PubMed Link: 32300403
Variant Present in the following documents:
  • Main text
  • jh-06-105.pdf
View BVdb publication page



Detection of CALR Mutations Using High Resolution Melting Curve Analysis (HRM-A); Application on a Large Cohort of Greek ET and MF Patients.

Mediterranean Journal Of Hematology And Infectious Diseases
Giannopoulos, Andreas A; Rougkala, Niki N; Loupis, Theodoros T; Mantzourani, Marina M; Viniou, Nora-Athina NA; Variami, Eleni E; Vassilakopoulos, Theodoros P TP; Dryllis, George G; Kotsianidis, Ioannis I; Gougopoulou, Theodora T; Politou, Marianna M; Konstantopoulos, Kostas K; Vassilopoulos, George G
Publication Date: 2019

Variant appearance in text: CALR: 1098_1131del; L367fs
PubMed Link: 30671215
Variant Present in the following documents:
  • Main text
  • mjhid-11-1-e2019009.pdf
View BVdb publication page