APC c.423_481del ;(p.S142Tfs*6)

Variant ID: 5-112111326-GGTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTC-G

NM_000038.5(APC):c.423_481del;(p.S142Tfs*6)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Wang, Dan D; Zhang, Zhao Z; Li, Yuwei Y; Xu, Chen C; Yu, Yongjun Y; Li, Mingsen M; Chen, Chao C; Zhang, Xipeng X
Publication Date: 2019-05-22

Variant appearance in text: APC: 423_8532del
PubMed Link: 31113927
Variant Present in the following documents:
  • Main text
  • medscimonit-25-3796.pdf
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: 423_8532del
PubMed Link: 29901124
Variant Present in the following documents:
  • Main text
  • mmr-18-02-1423.pdf
View BVdb publication page



A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis.

Oncotarget
Zhang, Zhao Z; Liang, Shengran S; Huang, Hui H; Wang, Dan D; Zhang, Xipeng X; Wu, Jing J; Chen, Huishuang H; Wang, Yanyan Y; Rong, Tingting T; Zhou, Yulin Y; Banerjee, Santasree S
Publication Date: 2016-08-02

Variant appearance in text: APC: 423_8532del
PubMed Link: 27391059
Variant Present in the following documents:
  • Main text
  • oncotarget-07-50392.pdf
View BVdb publication page