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MSH6 c.3416del ;(p.G1139Afs*6)
Variant ID: 2-48030796-TG-T
NM_000179.2(
MSH6
):c.3416del;(p.G1139Afs*6)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.
Diagnostics (Basel, Switzerland)
Panigoro, Sonar Soni SS; Paramita, Rafika Indah RI; Siswiandari, Kristina Maria KM; Fadilah, Fadilah F
Publication Date: 2022-09-16
Variant appearance in text: MSH6: G1139Afs
PubMed Link:
36140642
Variant Present in the following documents:
diagnostics-12-02241.pdf
View BVdb publication page
Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.
Frontiers In Oncology
Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L
Publication Date: 2021
Variant appearance in text: MSH6: 3416del; G1139Afs*6
PubMed Link:
34858840
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: MSH6: 3416delG; Gly1139Alafs
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page
Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.
Frontiers In Oncology
Xu, Ting T; Zhang, Yinjie Y; Zhang, Jing J; Qi, Changsong C; Liu, Dan D; Wang, Zhenghang Z; Li, Yanyan Y; Ji, Congcong C; Li, Jian J; Lin, Xuan X; Hou, Ting T; Liu, Hao H; Zhang, Lu L; Han-Zhang, Han H; Shen, Lin L; Wang, Xicheng X
Publication Date: 2020
Variant appearance in text: MSH6: 3416del; G1139fs
PubMed Link:
33194656
Variant Present in the following documents:
Main text
fonc-10-568911.pdf
View BVdb publication page