NF1 c.77G>C ;(p.G26A)

Variant ID: 17-29483017-G-C

NM_001042492.2(NF1):c.77G>C;(p.G26A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: NF1: Gly26Ala
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

American Journal Of Human Genetics
Fahsold, R R; Hoffmeyer, S S; Mischung, C C; Gille, C C; Ehlers, C C; Kücükceylan, N N; Abdel-Nour, M M; Gewies, A A; Peters, H H; Kaufmann, D D; Buske, A A; Tinschert, S S; Nürnberg, P P
Publication Date: 2000-03

Variant appearance in text: NF1: G26A
PubMed Link: 10712197
Variant Present in the following documents:
  • Main text
View BVdb publication page