NF1 c.1207C>T ;(p.P403S)

Variant ID: 17-29528450-C-T

NM_001042492.2(NF1):c.1207C>T;(p.P403S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: NF1: P403S
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, 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: NF1: 1207C>T; Pro403Ser
PubMed Link: 26056819
Variant Present in the following documents:
  • Main text
  • srep11291.pdf
  • srep11291-s1.pdf
View BVdb publication page