KIT c.1740C>T ;(p.H580=)

Variant ID: 4-55593674-C-T

NM_000222.2(KIT):c.1740C>T;(p.H580=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic heterogeneity in hepatocellular carcinoma and paired bone metastasis revealed by next-generation sequencing.

International Journal Of Clinical And Experimental Pathology
Jin, Ketao K; Lan, Huanrong H; Wang, Xuanwei X; Lv, Jieqing J
Publication Date: 2017

Variant appearance in text: KIT: 1740C>T; His580His
PubMed Link: 31966388
Variant Present in the following documents:
  • Main text
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: KIT: H580H
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page