APC c.2136_2139del ;(p.H712Qfs*5)

Variant ID: 5-112173419-CTCAT-C

NM_000038.5(APC):c.2136_2139del;(p.H712Qfs*5)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: APC: 2136_2139del; H712Qfs*5
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice
Friedl, Waltraut W; Aretz, Stefan S
Publication Date: 2005-09-15

Variant appearance in text: APC: 2136_2139delTTCA; His712fs
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
  • 1897-4287-3-3-95.pdf
View BVdb publication page