NF1 c.4172C>G ;(p.S1391*)

Variant ID: 17-29580017-C-G

NM_001042492.2(NF1):c.4172C>G;(p.S1391*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: NF1: 4172C>G; Ser1391*
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: NF1: 4172C>G; Ser1391*
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Clinically Integrated Sequencing Alters Therapy in Children and Young Adults With High-Risk Glial Brain Tumors.

Jco Precision Oncology
Koschmann, Carl C; Wu, Yi-Mi YM; Kumar-Sinha, Chandan C; Lonigro, Robert R; Vats, Pankaj P; Kasaian, Katayoon K; Cieslik, Marcin M; Cao, Xuhong X; Anderson, Bailey B; Frank, Kevin K; Zhao, Lili L; Prensner, John R JR; Zureick, Andrew H AH; Everett, Jessica J; Mullan, Brendan B; Marini, Bernard B; Camelo-Piragua, Sandra S; Venneti, Sriram S; McKeever, Paul P; McFadden, Kathryn K; Lieberman, Andrew P AP; Leonard, Marcia M; Maher, Cormac O CO; Garton, Hugh H; Muraszko, Karin K; Robertson, Patricia P; Robinson, Dan D; Chinnaiyan, Arul M AM; Mody, Rajen R
Publication Date: 2018

Variant appearance in text: NF1: S1391*
PubMed Link: 32832832
Variant Present in the following documents:
  • Main text
View BVdb publication page