MLH1 c.687del ;(p.I229Mfs*10)

Variant ID: 3-37055932-TA-T

NM_000249.3(MLH1):c.687del;(p.I229Mfs*10)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

Plos One
Jansen, Anne M L AM; Geilenkirchen, Marije A MA; van Wezel, Tom T; Jagmohan-Changur, Shantie C SC; Ruano, Dina D; van der Klift, Heleen M HM; van den Akker, Brendy E W M BE; Laros, Jeroen F J JF; van Galen, Michiel M; Wagner, Anja A; Letteboer, Tom G W TG; Gómez-García, Encarna B EB; Tops, Carli M J CM; Vasen, Hans F HF; Devilee, Peter P; Hes, Frederik J FJ; Morreau, Hans H; Wijnen, Juul T JT
Publication Date: 2016

Variant appearance in text: MLH1: 687delA; I229Mfs*10
PubMed Link: 27300758
Variant Present in the following documents:
  • Main text
  • pone.0157381.pdf
  • pone.0157381.s001.xlsx, sheet 1
View BVdb publication page



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: MLH1: 687delA
PubMed Link: 26648449
Variant Present in the following documents:
  • ejhg2015252x2.xlsx, sheet 1
View BVdb publication page