MSH6 c.3866_3867delinsAA ;(p.F1289*)

Variant ID: 2-48033655-TC-AA

NM_000179.2(MSH6):c.3866_3867delinsAA;(p.F1289*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.

Journal Of The National Cancer Institute
Post, Cathalijne C B CCB; Stelloo, Ellen E; Smit, Vincent T H B M VTHBM; Ruano, Dina D; Tops, Carli M CM; Vermij, Lisa L; Rutten, Tessa A TA; Jürgenliemk-Schulz, Ina M IM; Lutgens, Ludy C H W LCHW; Jobsen, Jan J JJ; Nout, Remi A RA; Crosbie, Emma J EJ; Powell, Melanie E ME; Mileshkin, Linda L; Leary, Alexandra A; Bessette, Paul P; Putter, Hein H; de Boer, Stephanie M SM; Horeweg, Nanda N; Nielsen, Maartje M; Wezel, Tom van TV; Bosse, Tjalling T; Creutzberg, Carien L CL
Publication Date: 2021-09-04

Variant appearance in text: MSH6: Phe1289*
PubMed Link: 33693762
Variant Present in the following documents:
  • Main text
  • djab029.pdf
View BVdb publication page



Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

Jco Precision Oncology
MacFarland, Suzanne P SP; Zelley, Kristin K; Surrey, Lea F LF; Gallo, Daniel D; Luo, Minjie M; Raman, Pichai P; Wertheim, Gerald G; Hunger, Stephen P SP; Li, Marilyn M MM; Brodeur, Garrett M GM
Publication Date: 2019

Variant appearance in text: MSH6: Phe1289*
PubMed Link: 32783018
Variant Present in the following documents:
  • Main text
View BVdb publication page