APC c.1317del ;(p.A440Lfs*14)

Variant ID: 5-112157597-CA-C

NM_000038.5(APC):c.1317del;(p.A440Lfs*14)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis.

Bmc Medical Genomics
Wanitsuwan, Worrawit W; Vijasika, Sukanya S; Jirarattanasopa, Pichai P; Horpaopan, Sukanya S
Publication Date: 2021-03-19

Variant appearance in text: APC: 1317delA
PubMed Link: 33740971
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_933.pdf
View BVdb publication page



Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.

Journal Of Cancer
Liu, Qiang Q; Tan, Yue-Qiu YQ
Publication Date: 2019

Variant appearance in text: APC: 1317delA
PubMed Link: 30719162
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.

Molecular Medicine Reports
Pang, Minghui M; Liu, Yijun Y; Hou, Xiaolin X; Yang, Jialiang J; He, Xuelai X; Hou, Nengyi N; Liu, Peixi P; Liang, Luo L; Fu, Junwen J; Wang, Kang K; Ye, Zimeng Z; Gong, Bo B
Publication Date: 2018-08

Variant appearance in text: APC: 1317delA
PubMed Link: 29901124
Variant Present in the following documents:
  • Main text
  • mmr-18-02-1423.pdf
View BVdb publication page