MSH6 c.2979A>G ;(p.E993=)

Variant ID: 2-48028101-A-G

NM_000179.2(MSH6):c.2979A>G;(p.E993=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Advanced adenomas may be a red flag for hereditary cancer syndromes.

Hereditary Cancer In Clinical Practice
Patel, Swati G SG; Hampel, Heather H; Smith, Derek D; Gao, Dexiang D; Cockburn, Myles M; Kastrinos, Fay F
Publication Date: 2021-01-12

Variant appearance in text: MSH6: 2979A>G
PubMed Link: 33436027
Variant Present in the following documents:
  • 13053_2020_Article_164.pdf
View BVdb publication page



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: 2979A>G
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page