NF1 c.6789_6792del ;(p.I2264Sfs*3)

Variant ID: 17-29665125-CAGAT-C

NM_001042492.2(NF1):c.6789_6792del;(p.I2264Sfs*3)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Cancers
Paterra, Rosina R; Bettinaglio, Paola P; Borghi, Arianna A; Mangano, Eleonora E; Tritto, Viviana V; Cesaretti, Claudia C; Schettino, Carla C; Bordoni, Roberta R; Santoro, Claudia C; Avignone, Sabrina S; Moscatelli, Marco M; Melone, Mariarosa Anna Beatrice MAB; Saletti, Veronica V; Piluso, Giulio G; Natacci, Federica F; Riva, Paola P; Eoli, Marica M
Publication Date: 2022-12-22

Variant appearance in text: NF1: 6789_6792del
PubMed Link: 36612057
Variant Present in the following documents:
  • cancers-15-00059.pdf
View BVdb publication page



Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology
Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M
Publication Date: 2022-10

Variant appearance in text: NF1: 6789_6792del
PubMed Link: 35971249
Variant Present in the following documents:
  • MOL2-16-3689-s003.xlsx, sheet 1
View BVdb publication page



Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Genome Medicine
Ho, Peh Joo PJ; Khng, Alexis J AJ; Loh, Hui Wen HW; Ho, Weang-Kee WK; Yip, Cheng Har CH; Mohd-Taib, Nur Aishah NA; Tan, Veronique Kiak Mien VKM; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Ern Yu EY; Lim, Swee Ho SH; Jamaris, Suniza S; Sim, Yirong Y; Wong, Fuh Yong FY; Ngeow, Joanne J; Lim, Elaine Hsuen EH; Tai, Mei Chee MC; Wijaya, Eldarina Azfar EA; Lee, Soo Chin SC; Chan, Ching Wan CW; Buhari, Shaik Ahmad SA; Chan, Patrick M Y PMY; Chen, Juliana J C JJC; Seah, Jaime Chin Mui JCM; Lee, Wai Peng WP; Mok, Chi Wei CW; Lim, Geok Hoon GH; Woo, Evan E; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Dunning, Alison M AM; Easton, Douglas F DF; Schmidt, Marjanka K MK; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M
Publication Date: 2021-12-02

Variant appearance in text: NF1: 6789_6792del
PubMed Link: 34857041
Variant Present in the following documents:
  • 13073_2021_978_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

Cancer Research
Brems, Hilde H; Park, Caroline C; Maertens, Ophélia O; Pemov, Alexander A; Messiaen, Ludwine L; Messia, Ludwine L; Upadhyaya, Meena M; Claes, Kathleen K; Beert, Eline E; Peeters, Kristel K; Mautner, Victor V; Sloan, Jennifer L JL; Yao, Lawrence L; Lee, Chyi-Chia Richard CC; Sciot, Raf R; De Smet, Luc L; Legius, Eric E; Stewart, Douglas R DR
Publication Date: 2009-09-15

Variant appearance in text: NF1: 6789_6792del
PubMed Link: 19738042
Variant Present in the following documents:
  • Main text
View BVdb publication page