MSH6 c.1614T>A ;(p.Y538*)

Variant ID: 2-48026736-T-A

NM_000179.2(MSH6):c.1614T>A;(p.Y538*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.

British Journal Of Cancer
You, J-F JF; Buhard, O O; Ligtenberg, M J L MJ; Kets, C M CM; Niessen, R C RC; Hofstra, R M W RM; Wagner, A A; Dinjens, W N M WN; Colas, C C; Lascols, O O; Collura, A A; Flejou, J-F JF; Duval, A A; Hamelin, R R
Publication Date: 2010-12-07

Variant appearance in text: MSH6: Tyr538X
PubMed Link: 21081928
Variant Present in the following documents:
  • Main text
  • 6605988a.pdf
View BVdb publication page