NF1 c.2965G>T ;(p.E989*)

Variant ID: 17-29556967-G-T

NM_001042492.2(NF1):c.2965G>T;(p.E989*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.

Cell Reports
Wegscheid, Michelle L ML; Anastasaki, Corina C; Hartigan, Kelly A KA; Cobb, Olivia M OM; Papke, Jason B JB; Traber, Jennifer N JN; Morris, Stephanie M SM; Gutmann, David H DH
Publication Date: 2021-07-06

Variant appearance in text: NF1: 2965G>T
PubMed Link: 34233200
Variant Present in the following documents:
  • NIHMS1722138-supplement-2.pdf
  • NIHMS1722138-supplement-1.pdf
View BVdb publication page



Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

British Journal Of Cancer
Rohan, Thomas E TE; Miller, Christopher A CA; Li, Tiandao T; Wang, Yihong Y; Loudig, Olivier O; Ginsberg, Mindy M; Glass, Andrew A; Mardis, Elaine E
Publication Date: 2018-06

Variant appearance in text: NF1: E989*
PubMed Link: 29872146
Variant Present in the following documents:
  • 41416_2018_89_MOESM2_ESM.xls, sheet 1
  • 41416_2018_89_MOESM2_ESM.xls, sheet 2
View BVdb publication page