NOTCH1 c.55G>A ;(p.A19T)

Variant ID: 9-139440184-C-T

NM_017617.3(NOTCH1):c.55G>A;(p.A19T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: NOTCH1: A19T
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia.

Journal Of Personalized Medicine
Vega-Garcia, Nerea N; Benito, Rocío R; Esperanza-Cebollada, Elena E; Llop, Marta M; Robledo, Cristina C; Vicente-Garcés, Clara C; Alonso, Javier J; Barragán, Eva E; Fernández, Guerau G; Hernández-Sánchez, Jesús M JM; Martín-Izquierdo, Marta M; Maynou, Joan J; Minguela, Alfredo A; Montaño, Adrián A; Ortega, Margarita M; Torrebadell, Montserrat M; Cervera, José J; Sánchez, Joaquín J; Jiménez-Velasco, Antonio A; Riesco, Susana S; Hernández-Rivas, Jesús M JM; Lassaletta, Álvaro Á; Fernández, José María JM; Rives, Susana S; Dapena, José Luis JL; Ramírez, Manuel M; Camós, Mireia M; On Behalf Of The Group Of Leukemia Of The Spanish Society Of Pediatric Hematology And Oncology Sehop,
Publication Date: 2020-11-26

Variant appearance in text: NOTCH1: 55G>A; Ala19Thr
PubMed Link: 33255984
Variant Present in the following documents:
  • jpm-10-00244-s001.pdf
View BVdb publication page



Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: NOTCH1: A19T
PubMed Link: 28810143
Variant Present in the following documents:
  • mmc4.xlsx, sheet 4
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: NOTCH1: A19T
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page