PIK3CA c.3144T>C ;(p.H1048=)

Variant ID: 3-178952089-T-C

NM_006218.2(PIK3CA):c.3144T>C;(p.H1048=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Next generation DNA sequencing of atypical choroid plexus papilloma of brain: Identification of novel mutations in a female patient by Ion Proton.

Oncology Letters
Taher, Mohiuddin M MM; Hassan, Amal Ali AA; Saeed, Muhammad M; Jastania, Raid A RA; Nageeti, Tahani H TH; Alkhalidi, Hisham H; Dairi, Ghida G; Abduljaleel, Zainularifeen Z; Athar, Mohammad M; Bouazzaoui, Abdellatif A; El-Bjeirami, Wafa M WM; Al-Allaf, Faisal A FA
Publication Date: 2019-11

Variant appearance in text: PIK3CA: 3144T>C; His1048His
PubMed Link: 31612017
Variant Present in the following documents:
  • Main text
  • ol-18-05-5063.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: PIK3CA: H1048H
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page