GC c.1187_1188delinsAT ;(p.L396H)

Variant ID: 4-72620202-TA-AT

NM_000583.3(GC):c.1187_1188delinsAT;(p.L396H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: GC: Leu396His
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: GC: L396H
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.

Human Molecular Genetics
Milne, Roger L RL; Burwinkel, Barbara B; Michailidou, Kyriaki K; Arias-Perez, Jose-Ignacio JI; Zamora, M Pilar MP; Menéndez-Rodríguez, Primitiva P; Hardisson, David D; Mendiola, Marta M; González-Neira, Anna A; Pita, Guillermo G; Alonso, M Rosario MR; Dennis, Joe J; Wang, Qin Q; Bolla, Manjeet K MK; Swerdlow, Anthony A; Ashworth, Alan A; Orr, Nick N; Schoemaker, Minouk M; Ko, Yon-Dschun YD; Brauch, Hiltrud H; Hamann, Ute U; , ; Andrulis, Irene L IL; Knight, Julia A JA; Glendon, Gord G; Tchatchou, Sandrine S; , ; , ; Matsuo, Keitaro K; Ito, Hidemi H; Iwata, Hiroji H; Tajima, Kazuo K; Li, Jingmei J; Brand, Judith S JS; Brenner, Hermann H; Dieffenbach, Aida Karina AK; Arndt, Volker V; Stegmaier, Christa C; Lambrechts, Diether D; Peuteman, Gilian G; Christiaens, Marie-Rose MR; Smeets, Ann A; Jakubowska, Anna A; Lubinski, Jan J; Jaworska-Bieniek, Katarzyna K; Durda, Katazyna K; Hartman, Mikael M; Hui, Miao M; Yen Lim, Wei W; Wan Chan, Ching C; Marme, Federick F; Yang, Rongxi R; Bugert, Peter P; Lindblom, Annika A; Margolin, Sara S; García-Closas, Montserrat M; Chanock, Stephen J SJ; Lissowska, Jolanta J; Figueroa, Jonine D JD; Bojesen, Stig E SE; Nordestgaard, Børge G BG; Flyger, Henrik H; Hooning, Maartje J MJ; Kriege, Mieke M; van den Ouweland, Ans M W AM; Koppert, Linetta B LB; Fletcher, Olivia O; Johnson, Nichola N; dos-Santos-Silva, Isabel I; Peto, Julian J; Zheng, Wei W; Deming-Halverson, Sandra S; Shrubsole, Martha J MJ; Long, Jirong J; Chang-Claude, Jenny J; Rudolph, Anja A; Seibold, Petra P; Flesch-Janys, Dieter D; Winqvist, Robert R; Pylkäs, Katri K; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Cox, Angela A; Cross, Simon S SS; Reed, Malcolm W R MW; Schmidt, Marjanka K MK; Broeks, Annegien A; Cornelissen, Sten S; Braaf, Linde L; Kang, Daehee D; Choi, Ji-Yeob JY; Park, Sue K SK; Noh, Dong-Young DY; Simard, Jacques J; Dumont, Martine M; Goldberg, Mark S MS; Labrèche, France F; Fasching, Peter A PA; Hein, Alexander A; Ekici, Arif B AB; Beckmann, Matthias W MW; Radice, Paolo P; Peterlongo, Paolo P; Azzollini, Jacopo J; Barile, Monica M; Sawyer, Elinor E; Tomlinson, Ian I; Kerin, Michael M; Miller, Nicola N; Hopper, John L JL; Schmidt, Daniel F DF; Makalic, Enes E; Southey, Melissa C MC; Hwang Teo, Soo S; Har Yip, Cheng C; Sivanandan, Kavitta K; Tay, Wan-Ting WT; Shen, Chen-Yang CY; Hsiung, Chia-Ni CN; Yu, Jyh-Cherng JC; Hou, Ming-Feng MF; Guénel, Pascal P; Truong, Therese T; Sanchez, Marie M; Mulot, Claire C; Blot, William W; Cai, Qiuyin Q; Nevanlinna, Heli H; Muranen, Taru A TA; Aittomäki, Kristiina K; Blomqvist, Carl C; Wu, Anna H AH; Tseng, Chiu-Chen CC; Van Den Berg, David D; Stram, Daniel O DO; Bogdanova, Natalia N; Dörk, Thilo T; Muir, Kenneth K; Lophatananon, Artitaya A; Stewart-Brown, Sarah S; Siriwanarangsan, Pornthep P; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Shu, Xiao-Ou XO; Lu, Wei W; Gao, Yu-Tang YT; Zhang, Ben B; Couch, Fergus J FJ; Toland, Amanda E AE; , ; Yannoukakos, Drakoulis D; Sangrajrang, Suleeporn S; McKay, James J; Wang, Xianshu X; Olson, Janet E JE; Vachon, Celine C; Purrington, Kristen K; Severi, Gianluca G; Baglietto, Laura L; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Fredrick F; Le Marchand, Loic L; Devilee, Peter P; Tollenaar, Robert A E M RA; Seynaeve, Caroline C; Czene, Kamila K; Eriksson, Mikael M; Humphreys, Keith K; Darabi, Hatef H; Ahmed, Shahana S; Shah, Mitul M; Pharoah, Paul D P PD; Hall, Per P; Giles, Graham G GG; Benítez, Javier J; Dunning, Alison M AM; Chenevix-Trench, Georgia G; Easton, Douglas F DF
Publication Date: 2014-11-15

Variant appearance in text: GC: L396H
PubMed Link: 24943594
Variant Present in the following documents:
  • Main text
View BVdb publication page