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CALR c.1154delinsCTTGTC ;(p.K385Tfs*47)
Variant ID: 19-13054627-A-CTTGTC
NM_004343.3(
CALR
):c.1154delinsCTTGTC;(p.K385Tfs*47)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: 1154delinsCTTGTC; K385Tfs*47
PubMed Link:
33785036
Variant Present in the following documents:
13045_2021_1064_MOESM7_ESM.pdf
View BVdb publication page
INDELseek: detection of complex insertions and deletions from next-generation sequencing data.
Bmc Genomics
Au, Chun Hang CH; Leung, Anskar Y H AY; Kwong, Ava A; Chan, Tsun Leung TL; Ma, Edmond S K ES
Publication Date: 2017-01-05
Variant appearance in text: CALR: 1154delAinsCTTGTC; Lys385Thrfs*47
PubMed Link:
28056804
Variant Present in the following documents:
Main text
12864_2016_Article_3449.pdf
View BVdb publication page
A new monoclonal antibody (CAL2) detects CALRETICULIN mutations in formalin-fixed and paraffin-embedded bone marrow biopsies.
Leukemia
Stein, H H; Bob, R R; Dürkop, H H; Erck, C C; Kämpfe, D D; Kvasnicka, H-M HM; Martens, H H; Roth, A A; Streubel, A A
Publication Date: 2016-01
Variant appearance in text: N/A
PubMed Link:
26202929
Variant Present in the following documents:
View BVdb publication page