NF1 c.7368A>C ;(p.K2456N)

Variant ID: 17-29677247-A-C

NM_001042492.2(NF1):c.7368A>C;(p.K2456N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.

Frontiers In Oncology
Kim, Junhyung J; Hwang, Kihwan K; Kwon, Hyun Jung HJ; Lee, Ji Eun JE; Lee, Kyu Sang KS; Choe, Gheeyoung G; Han, Jung Ho JH; Kim, Chae-Yong CY
Publication Date: 2022

Variant appearance in text: rs201287021
PubMed Link: 35774130
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 2
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs201287021
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.

Scientific Reports
Zhang, Jia J; Tong, Hanxing H; Fu, Xi'an X; Zhang, Yong Y; Liu, Jiangbo J; Cheng, Ruhong R; Liang, Jianying J; Peng, Jie J; Sun, Zhonghui Z; Liu, Hong H; Zhang, Furen F; Lu, Weiqi W; Li, Ming M; Yao, Zhirong Z
Publication Date: 2015-06-09

Variant appearance in text: rs201287021
PubMed Link: 26056819
Variant Present in the following documents:
  • srep11291-s1.pdf
View BVdb publication page