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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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