ALK c.3480C>T ;(p.D1160=)

Variant ID: 2-29445245-G-A

NM_004304.4(ALK):c.3480C>T;(p.D1160=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Low Frequency ALK Hotspots Mutations In Neuroblastoma Tumours Detected By Ultra-deep Sequencing: Implications For ALK Inhibitor Treatment.

Scientific Reports
Javanmardi, Niloufar N; Fransson, Susanne S; Djos, Anna A; Sjöberg, Rose-Marie RM; Nilsson, Staffan S; Truvé, Katarina K; Kogner, Per P; Martinsson, Tommy T
Publication Date: 2019-02-18

Variant appearance in text: ALK: D1160D
PubMed Link: 30778092
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_37240.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: ALK: D1160D
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page