NF1 c.2156T>C ;(p.I719T)

Variant ID: 17-29553607-T-C

NM_001042492.2(NF1):c.2156T>C;(p.I719T)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Genomic and microenvironmental landscape of stage I follicular lymphoma, compared with stage III/IV.

Blood Advances
Los-de Vries, G Tjitske GT; Stevens, Wendy B C WBC; van Dijk, Erik E; Langois-Jacques, Carole C; Clear, Andrew J AJ; Stathi, Phylicia P; Roemer, Margaretha G M MGM; Mendeville, Matias M; Hijmering, Nathalie J NJ; Sander, Birgitta B; Rosenwald, Andreas A; Calaminici, Maria M; Hoster, Eva E; Hiddemann, Wolfgang W; Gaulard, Philippe P; Salles, Gilles G; Horn, Heike H; Klapper, Wolfram W; Xerri, Luc L; Burton, Catherine C; Tooze, Reuben M RM; Smith, Alexandra G AG; Buske, Christian C; Scott, David W DW; Natkunam, Yasodha Y; Advani, Ranjana R; Sehn, Laurie H LH; Raemaekers, John J; Gribben, John J; Kimby, Eva E; Kersten, Marie José MJ; Maucort-Boulch, Delphine D; Ylstra, Bauke B; de Jong, Daphne D
Publication Date: 2022-09-27

Variant appearance in text: NF1: 2156T>C; I719T; rs754025938
PubMed Link: 35816682
Variant Present in the following documents:
  • advancesADV2022008355-suppl2.xlsx, sheet 11
View BVdb publication page



Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine
Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z
Publication Date: 2022-11

Variant appearance in text: NF1: 2156T>C; I719T
PubMed Link: 35586877
Variant Present in the following documents:
  • CAM4-11-4070-s004.xlsx, sheet 1
View BVdb publication page



Complementary Sequential Circulating Tumor Cell (CTC) and Cell-Free Tumor DNA (ctDNA) Profiling Reveals Metastatic Heterogeneity and Genomic Changes in Lung Cancer and Breast Cancer.

Frontiers In Oncology
Kong, Say Li SL; Liu, Xingliang X; Tan, Swee Jin SJ; Tai, Joyce A JA; Phua, Ler Yee LY; Poh, Huay Mei HM; Yeo, Trifanny T; Chua, Yong Wei YW; Haw, Yu Xuan YX; Ling, Wen Huan WH; Ng, Raymond Chee Hui RCH; Tan, Tira J TJ; Loh, Kiley Wei Jen KWJ; Tan, Daniel Shao-Weng DS; Ng, Quan Sing QS; Ang, Mei Kim MK; Toh, Chee Keong CK; Lee, Yi Fang YF; Lim, Chwee Teck CT; Lim, Tony Kiat Hon TKH; Hillmer, Axel M AM; Yap, Yoon Sim YS; Lim, Wan-Teck WT
Publication Date: 2021

Variant appearance in text: NF1: I719T
PubMed Link: 34336686
Variant Present in the following documents:
  • Table_1.xlsx, sheet 8
View BVdb publication page



Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.

Frontiers In Oncology
Yuan, Ting T; Wang, Xin X; Sun, Sijin S; Cao, Zheng Z; Feng, Xiaoli X; Gao, Yibo Y
Publication Date: 2021

Variant appearance in text: NF1: 2156T>C; Ile719Thr; rs754025938
PubMed Link: 34168983
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 3
View BVdb publication page



Comprehensive Molecular Profiling for Relapsed/Refractory Pediatric Burkitt Lymphomas-Retrospective Analysis of Three Real-Life Clinical Cases-Addressing Issues on Randomization and Customization at the Bedside.

Frontiers In Oncology
Polaskova, Kristyna K; Merta, Tomas T; Martincekova, Alexandra A; Zapletalova, Danica D; Kyr, Michal M; Mazanek, Pavel P; Krenova, Zdenka Z; Mudry, Peter P; Jezova, Marta M; Tuma, Jiri J; Skotakova, Jarmila J; Cervinkova, Ivana I; Valik, Dalibor D; Zdrazilova-Dubska, Lenka L; Noskova, Hana H; Pal, Karol K; Slaby, Ondrej O; Fabian, Pavel P; Kozakova, Sarka S; Neradil, Jakub J; Veselska, Renata R; Kanderova, Veronika V; Hrusak, Ondrej O; Freiberger, Tomas T; Klement, Giannoula Lakka GL; Sterba, Jaroslav J
Publication Date: 2019

Variant appearance in text: NF1: 2156T>C; I719T; rs754025938
PubMed Link: 32117783
Variant Present in the following documents:
  • Data_Sheet_2.pdf
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: NF1: 2156T>C; I719T; rs754025938
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM8_ESM.xls, sheet 1
  • 12920_2020_668_MOESM7_ESM.xls, sheet 1
View BVdb publication page



Clinical significance of stromal ER and PR expression in periampullary adenocarcinoma.

Biomarker Research
Andersson, Gustav G; Lundgren, Sebastian S; Heby, Margareta M; Nodin, Björn B; Elebro, Jacob J; Jirström, Karin K
Publication Date: 2019

Variant appearance in text: NF1: 2156T>C; Ile719Thr
PubMed Link: 31827798
Variant Present in the following documents:
  • 40364_2019_176_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One
Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY
Publication Date: 2019

Variant appearance in text: NF1: I719T
PubMed Link: 31747416
Variant Present in the following documents:
  • pone.0224227.s002.xlsx, sheet 1
View BVdb publication page



Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10

Variant appearance in text: rs754025938
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Targeted DNA sequencing of non-small cell lung cancer identifies mutations associated with brain metastases.

Oncotarget
Wilson, George D GD; Johnson, Matthew D MD; Ahmed, Samreen S; Cardenas, Paola Yumpo PY; Grills, Inga S IS; Thibodeau, Bryan J BJ
Publication Date: 2018-05-25

Variant appearance in text: NF1: 2156T>C; I719T
PubMed Link: 29899834
Variant Present in the following documents:
  • oncotarget-09-25957-s003.xlsx, sheet 1
View BVdb publication page