POLE c.2049_2050insA ;(p.H684Tfs*26)

Variant ID: 12-133245065-G-GT

NM_006231.2(POLE):c.2049_2050insA;(p.H684Tfs*26)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Nature Communications
Chubb, Daniel D; Broderick, Peter P; Dobbins, Sara E SE; Frampton, Matthew M; Kinnersley, Ben B; Penegar, Steven S; Price, Amy A; Ma, Yussanne P YP; Sherborne, Amy L AL; Palles, Claire C; Timofeeva, Maria N MN; Bishop, D Timothy DT; Dunlop, Malcolm G MG; Tomlinson, Ian I; Houlston, Richard S RS
Publication Date: 2016-06-22

Variant appearance in text: POLE: 2049_2050insA
PubMed Link: 27329137
Variant Present in the following documents:
  • Main text
  • ncomms11883-s1.pdf
View BVdb publication page