MSH6 c.1295T>G ;(p.F432C)

Variant ID: 2-48026417-T-G

NM_000179.2(MSH6):c.1295T>G;(p.F432C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas.

Genome Medicine
Buckley, Alexandra R AR; Ideker, Trey T; Carter, Hannah H; Harismendy, Olivier O; Schork, Nicholas J NJ
Publication Date: 2018-09-14

Variant appearance in text: MSH6: F432C
PubMed Link: 30217226
Variant Present in the following documents:
  • Main text
  • 13073_2018_Article_579.pdf
  • 13073_2018_579_MOESM1_ESM.pdf
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: MSH6: F432C
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s008.xlsx, sheet 1
View BVdb publication page