NF1 c.6291dup ;(p.A2098Sfs*22)

Variant ID: 17-29663795-C-CA

NM_001042492.2(NF1):c.6291dup;(p.A2098Sfs*22)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic alteration of Chinese patients with rectal mucosal melanoma.

Bmc Cancer
Li, Huan H; Yang, Lujing L; Lai, Yumei Y; Wang, Xintong X; Han, Xinyin X; Liu, Siyao S; Wang, Dongliang D; Li, Xiaojuan X; Hu, Nana N; Kong, Yan Y; Si, Lu L; Li, Zhongwu Z
Publication Date: 2021-05-27

Variant appearance in text: NF1: 6290_6291insA
PubMed Link: 34044811
Variant Present in the following documents:
  • 12885_2021_8383_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics
Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2011-10

Variant appearance in text: NF1: 6291insA
PubMed Link: 22155606
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-623.pdf
View BVdb publication page