NF1 c.3940T>C ;(p.W1314R)

Variant ID: 17-29563005-T-C

NM_001042492.2(NF1):c.3940T>C;(p.W1314R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: NF1: 3940T>C; Trp1314Arg
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

World Journal Of Gastroenterology
Gu, Guo-Li GL; Zhang, Zhi Z; Zhang, Yu-Hui YH; Yu, Peng-Fei PF; Dong, Zhi-Wei ZW; Yang, Hai-Rui HR; Yuan, Ying Y
Publication Date: 2021-10-21

Variant appearance in text: NF1: 3940T>C; W1314R
PubMed Link: 34754157
Variant Present in the following documents:
  • Main text
  • WJG-27-6631.pdf
View BVdb publication page



Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10

Variant appearance in text: rs576687606
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page