NF1 c.3424_3425del ;(p.R1142Afs*52)

Variant ID: 17-29559825-TGA-T

NM_001042492.2(NF1):c.3424_3425del;(p.R1142Afs*52)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science
Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y
Publication Date: 2022-11

Variant appearance in text: NF1: 3424_3425delAG; Arg1142fs
PubMed Link: 36065483
Variant Present in the following documents:
  • CAS-113-3972-s007.pdf
View BVdb publication page



Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

Human Mutation
Zhou, Wei-Zhen WZ; Zhang, Jie J; Li, Ziyi Z; Lin, Xiaojing X; Li, Jiarui J; Wang, Sheng S; Yang, Changhong C; Wu, Qixi Q; Ye, Adam Yongxin AY; Wang, Meng M; Wang, Dandan D; Pu, Tad Zhengzhang TZ; Wu, Yu-Yu YY; Wei, Liping L
Publication Date: 2019-06

Variant appearance in text: NF1: 3424_3425del
PubMed Link: 30763456
Variant Present in the following documents:
  • Main text
View BVdb publication page