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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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