ALK c.83G>A ;(p.R28H)

Variant ID: 2-30143443-C-T

NM_004304.4(ALK):c.83G>A;(p.R28H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic clonal evolution correlated with phenotype and prognosis in gastric cancer.

Clinical And Translational Medicine
Ge, Jie J; Li, Xuan X; Deng, Zhenghao Z; Gao, Xuan X; Liu, Yaoyao Y; Xiong, Xingui X; Zhao, Xianhui X; Peng, Huan H; Yi, Xin X; Xia, Xuefeng X; Chen, Zihua Z; Li, Lifeng L; Zhou, Haiyan H; Liu, Heli H
Publication Date: 2022-04

Variant appearance in text: ALK: 83G>A; R28H
PubMed Link: 35384329
Variant Present in the following documents:
  • CTM2-12-e799-s006.xlsx, sheet 2
View BVdb publication page



Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

International Journal Of Molecular Medicine
Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R
Publication Date: 2022-05

Variant appearance in text: ALK: 83G>A; Arg28His
PubMed Link: 35244186
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
View BVdb publication page



Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: ALK: 83G>A
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page