NF1 c.5297C>A ;(p.S1766*)

Variant ID: 17-29654545-C-A

NM_001042492.2(NF1):c.5297C>A;(p.S1766*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: NF1: S1766X
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families.

Balkan Medical Journal
Sharifi, Shahrashoub S; Kalaycı, Tuğba T; Palanduz, Şükrü Ş; Öztürk, Şükrü Ş; Cefle, Kıvanç K
Publication Date: 2021-11

Variant appearance in text: NF1: 5297C>A
PubMed Link: 34860164
Variant Present in the following documents:
  • Main text
  • bmj-38-6-365.pdf
View BVdb publication page



Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.

Nature Communications
Gotoh, Osamu O; Sugiyama, Yuko Y; Takazawa, Yutaka Y; Kato, Kazuyoshi K; Tanaka, Norio N; Omatsu, Kohei K; Takeshima, Nobuhiro N; Nomura, Hidetaka H; Hasegawa, Kosei K; Fujiwara, Keiichi K; Taki, Mana M; Matsumura, Noriomi N; Noda, Tetsuo T; Mori, Seiichi S
Publication Date: 2019-10-31

Variant appearance in text: NF1: S1766X
PubMed Link: 31672974
Variant Present in the following documents:
  • 41467_2019_12985_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page