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CALR c.1100_1145del ;(p.L367Qfs*48)
Variant ID: 19-13054567-AGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAG-A
NM_004343.3(
CALR
):c.1100_1145del;(p.L367Qfs*48)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms.
Diagnostics (Basel, Switzerland)
Kim, Hyun-Young HY; Han, Yujin Y; Jang, Jun Ho JH; Jung, Chul Won CW; Kim, Sun-Hee SH; Kim, Hee-Jin HJ
Publication Date: 2022-10-23
Variant appearance in text: CALR: 1100_1145del; Leu367Glnfs*48
PubMed Link:
36359414
Variant Present in the following documents:
diagnostics-12-02570.pdf
View BVdb publication page
Mutation Profile in BCR-ABL1-Negative Myeloproliferative Neoplasms: A Single-Center Experience From India.
Hematology/Oncology And Stem Cell Therapy
Maddali, Madhavi M; Kulkarni, Uday Prakash UP; Ravindra, Niveditha N; Arunachalam, Arun Kumar AK; Venkatraman, Arvind A; Lionel, Sharon S; Manipadam, Marie Therese MT; Devasia, Anup J AJ; Korula, Anu A; Fouzia, N A NA; Abraham, Aby A; Srivastava, Alok A; George, Biju B; Balasubramanian, Poonkuzhali P; Mathews, Vikram V
Publication Date: 2022-06-01
Variant appearance in text: CALR: 1100_1145del; L367Qfs*48
PubMed Link:
33789164
Variant Present in the following documents:
EMS126285.pdf
View BVdb publication page
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: 1100_1145del; L367Qfs*48
PubMed Link:
33785036
Variant Present in the following documents:
13045_2021_1064_MOESM7_ESM.pdf
View BVdb publication page
Clinical and Hematological Relevance of JAK2V617F, CALR, and MPL Mutations in Vietnamese Patients with Essential Thrombocythemia.
Asian Pacific Journal Of Cancer Prevention : Apjcp
Vu, Hoang Anh HA; Thao, Tran Thi TT; Dong, Cao Van CV; Vuong, Nguyen Lam NL; Chuong, Ho Quoc HQ; Van, Phan Nguyen Thanh PNT; Nghia, Huynh H; Binh, Nguyen Tan NT; Dung, Phu Chi PC; Xinh, Phan Thi PT
Publication Date: 2019-09-01
Variant appearance in text: CALR: 1100_1145del
PubMed Link:
31554376
Variant Present in the following documents:
Main text
APJCP-20-2775.pdf
View BVdb publication page
Coexistence of JAK2 and CALR mutations and their clinical implications in patients with essential thrombocythemia.
Oncotarget
Kang, Min-Gu MG; Choi, Hyun-Woo HW; Lee, Jun Hyung JH; Choi, Yong Jun YJ; Choi, Hyun-Jung HJ; Shin, Jong-Hee JH; Suh, Soon-Pal SP; Szardenings, Michael M; Kim, Hye-Ran HR; Shin, Myung-Geun MG
Publication Date: 2016-08-30
Variant appearance in text: CALR: 1095_1140del
PubMed Link:
27486987
Variant Present in the following documents:
Main text
oncotarget-07-57036.pdf
View BVdb publication page
Frequent CALR exon 9 alterations in JAK2 V617F-mutated essential thrombocythemia detected by high-resolution melting analysis.
Blood Cancer Journal
Lim, K-H KH; Chang, Y-C YC; Gon-Shen Chen, C C; Lin, H-C HC; Wang, W-T WT; Chiang, Y-H YH; Cheng, H-I HI; Su, N-W NW; Lin, J J; Chang, Y-F YF; Chang, M-C MC; Hsieh, R-K RK; Kuo, Y-Y YY; Chou, W-C WC
Publication Date: 2015-03-20
Variant appearance in text: CALR: 1095_1140del; L367fs
PubMed Link:
25794131
Variant Present in the following documents:
Main text
bcj201521a.pdf
View BVdb publication page
Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations.
Haematologica
Andrikovics, Hajnalka H; Krahling, Tunde T; Balassa, Katalin K; Halm, Gabriella G; Bors, Andras A; Koszarska, Magdalena M; Batai, Arpad A; Dolgos, Janos J; Csomor, Judit J; Egyed, Miklos M; Sipos, Andrea A; Remenyi, Peter P; Tordai, Attila A; Masszi, Tamas T
Publication Date: 2014-07
Variant appearance in text: CALR: 1095_1140del
PubMed Link:
24895336
Variant Present in the following documents:
Main text
View BVdb publication page