MSH6 c.2154C>T ;(p.S718=)

Variant ID: 2-48027276-C-T

NM_000179.2(MSH6):c.2154C>T;(p.S718=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MSH6: 2154C>T
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

British Journal Of Cancer
Kets, C M CM; van Krieken, J H J M JH; Hebeda, K M KM; Wezenberg, S J SJ; Goossens, M M; Brunner, H G HG; Ligtenberg, M J L MJ; Hoogerbrugge, N N
Publication Date: 2006-12-18

Variant appearance in text: MSH6: 2154C>T
PubMed Link: 17117178
Variant Present in the following documents:
  • Main text
View BVdb publication page