MLH1 c.1833dup ;(p.V612Cfs*2)

Variant ID: 3-37089109-A-AT

NM_000249.3(MLH1):c.1833dup;(p.V612Cfs*2)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.

Journal Of Cancer
Liu, Qiang Q; Tan, Yue-Qiu YQ
Publication Date: 2019

Variant appearance in text: MLH1: 1833dup
PubMed Link: 30719162
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer.

Human Genome Variation
Akizawa, Yoshika Y; Yamamoto, Toshiyuki T; Tamura, Kazuo K; Kanno, Toshiyuki T; Takahashi, Nobuko N; Ohki, Takeshi T; Omori, Teppei T; Tokushige, Katsutoshi K; Yamamoto, Masakazu M; Saito, Kayoko K
Publication Date: 2018

Variant appearance in text: MLH1: 1833dup; Val612Cysfs*2
PubMed Link: 30083359
Variant Present in the following documents:
  • Main text
  • 41439_2018_Article_13.pdf
View BVdb publication page