CALR c.301C>T ;(p.Q101*)

Variant ID: 19-13050349-C-T

NM_004343.3(CALR):c.301C>T;(p.Q101*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: CALR: 301C>T; Gln101*
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Cancer Science
Yasuda, Takahiko T; Sanada, Masashi M; Nishijima, Dai D; Kanamori, Takashi T; Iijima, Yuka Y; Hattori, Hiroyoshi H; Saito, Akiko A; Miyoshi, Hiroaki H; Ishikawa, Yuichi Y; Asou, Norio N; Usuki, Kensuke K; Hirabayashi, Shinsuke S; Kato, Motohiro M; Ri, Masaki M; Handa, Hiroshi H; Ishida, Tadao T; Shibayama, Hirohiko H; Abe, Masahiro M; Iriyama, Chisako C; Karube, Kennosuke K; Nishikori, Momoko M; Ohshima, Koichi K; Kataoka, Keisuke K; Yoshida, Kenichi K; Shiraishi, Yuichi Y; Goto, Hiroaki H; Adachi, Souichi S; Kobayashi, Ryoji R; Kiyoi, Hitoshi H; Miyazaki, Yasushi Y; Ogawa, Seishi S; Kurahashi, Hiroki H; Yokoyama, Hisayuki H; Manabe, Atsushi A; Iida, Shinsuke S; Tomita, Akihiro A; Horibe, Keizo K
Publication Date: 2020-09

Variant appearance in text: CALR: Q101X
PubMed Link: 32619037
Variant Present in the following documents:
  • CAS-111-3367-s004.xlsx, sheet 4
View BVdb publication page