IDH1 c.380C>T ;(p.P127L)

Variant ID: 2-209113127-G-A

NM_005896.2(IDH1):c.380C>T;(p.P127L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


EGFRvIII expression and isocitrate dehydrogenase mutations in patients with glioma.

Oncology Letters
Taher, Mohiuddin M MM; Dairi, Ghida G; Butt, Ejaz Muhammad EM; Al-Quthami, Khalid K; Al-Khalidi, Hisham H; Jastania, Raid A RA; Nageeti, Tahani H TH; Bogari, Neda M NM; Athar, Mohammad M; Al-Allaf, Faisal A FA; Valerie, Kristoffer K
Publication Date: 2020-12

Variant appearance in text: IDH1: 380C>T; Pro127Leu
PubMed Link: 33193845
Variant Present in the following documents:
  • Main text
  • ol-20-06-12247.pdf
  • Supplementary_Data.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: IDH1: P127L
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 3
View BVdb publication page