MSH6 c.3178_3179delinsAG ;(p.L1060R)

Variant ID: 2-48030564-TT-AG

NM_000179.2(MSH6):c.3178_3179delinsAG;(p.L1060R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Plos Genetics
Houlleberghs, Hellen H; Goverde, Anne A; Lusseveld, Jarnick J; Dekker, Marleen M; Bruno, Marco J MJ; Menko, Fred H FH; Mensenkamp, Arjen R AR; Spaander, Manon C W MCW; Wagner, Anja A; Hofstra, Robert M W RMW; Te Riele, Hein H
Publication Date: 2017-05

Variant appearance in text: MSH6: L1060R
PubMed Link: 28531214
Variant Present in the following documents:
  • Main text
  • pgen.1006765.pdf
View BVdb publication page