PC c.1209G>C ;(p.M403I)

Variant ID: 11-66631404-C-G

NM_001040716.1(PC):c.1209G>C;(p.M403I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Plos Genetics
Qi, Hongjian H; Yu, Lan L; Zhou, Xueya X; Wynn, Julia J; Zhao, Haoquan H; Guo, Yicheng Y; Zhu, Na N; Kitaygorodsky, Alexander A; Hernan, Rebecca R; Aspelund, Gudrun G; Lim, Foong-Yen FY; Crombleholme, Timothy T; Cusick, Robert R; Azarow, Kenneth K; Danko, Melissa E ME; Chung, Dai D; Warner, Brad W BW; Mychaliska, George B GB; Potoka, Douglas D; Wagner, Amy J AJ; ElFiky, Mahmoud M; Wilson, Jay M JM; Nickerson, Debbie D; Bamshad, Michael M; High, Frances A FA; Longoni, Mauro M; Donahoe, Patricia K PK; Chung, Wendy K WK; Shen, Yufeng Y
Publication Date: 2018-12

Variant appearance in text: PC: 1209G>C
PubMed Link: 30532227
Variant Present in the following documents:
  • Main text
  • pgen.1007822.pdf
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: PC: M403I
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page