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NF1 c.7368A>T ;(p.K2456N)
Variant ID: 17-29677247-A-T
NM_001042492.2(
NF1
):c.7368A>T;(p.K2456N)
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:
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