MSH6 c.3186C>A ;(p.C1062*)

Variant ID: 2-48030572-C-A

NM_000179.2(MSH6):c.3186C>A;(p.C1062*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

European Journal Of Human Genetics : Ejhg
Jansen, Anne Ml AM; van Wezel, Tom T; van den Akker, Brendy Ewm BE; Ventayol Garcia, Marina M; Ruano, Dina D; Tops, Carli Mj CM; Wagner, Anja A; Letteboer, Tom Gw TG; Gómez-García, Encarna B EB; Devilee, Peter P; Wijnen, Juul T JT; Hes, Frederik J FJ; Morreau, Hans H
Publication Date: 2016-07

Variant appearance in text: MSH6: C1062*
PubMed Link: 26648449
Variant Present in the following documents:
  • Main text
  • ejhg2015252a.pdf
View BVdb publication page