APC c.4343C>G ;(p.T1448S)

Variant ID: 5-112175634-C-G

NM_000038.5(APC):c.4343C>G;(p.T1448S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Plos Medicine
Hamblin, Angela A; Wordsworth, Sarah S; Fermont, Jilles M JM; Page, Suzanne S; Kaur, Kulvinder K; Camps, Carme C; Kaisaki, Pamela P; Gupta, Avinash A; Talbot, Denis D; Middleton, Mark M; Henderson, Shirley S; Cutts, Anthony A; Vavoulis, Dimitrios V DV; Housby, Nick N; Tomlinson, Ian I; Taylor, Jenny C JC; Schuh, Anna A
Publication Date: 2017-02

Variant appearance in text: APC: 4343C>G; T1448S
PubMed Link: 28196074
Variant Present in the following documents:
  • pmed.1002230.s004.xlsx, sheet 3
  • pmed.1002230.s004.xlsx, sheet 1
View BVdb publication page



Oncogenic function and clinical implications of SLC3A2-NRG1 fusion in invasive mucinous adenocarcinoma of the lung.

Oncotarget
Shin, Dong Hoon DH; Lee, Donghoon D; Hong, Dong Wan DW; Hong, Seung Hyun SH; Hwang, Jung-Ah JA; Lee, Byung Il BI; You, Hye Jin HJ; Lee, Geon Kook GK; Kim, In-Hoo IH; Lee, Yeon-Su YS; Han, Ji-Youn JY
Publication Date: 2016-10-25

Variant appearance in text: APC: T1448S
PubMed Link: 27626312
Variant Present in the following documents:
  • oncotarget-07-69450-s002.xlsx, sheet 2
View BVdb publication page



Evaluation of Mutational Testing of Preneoplastic Barrett's Mucosa by Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Endoscopic Samples for Detection of Concurrent Dysplasia and Adenocarcinoma in Barrett's Esophagus.

The Journal Of Molecular Diagnostics : Jmd
Del Portillo, Armando A; Lagana, Stephen M SM; Yao, Yuan Y; Uehara, Takeshi T; Jhala, Nirag N; Ganguly, Tapan T; Nagy, Peter P; Gutierrez, Jorge J; Luna, Aesis A; Abrams, Julian J; Liu, Yang Y; Brand, Randall R; Sepulveda, Jorge L JL; Falk, Gary W GW; Sepulveda, Antonia R AR
Publication Date: 2015-07

Variant appearance in text: APC: T1448S
PubMed Link: 26068095
Variant Present in the following documents:
  • Main text
View BVdb publication page