MSH6 c.*85T>A

Variant ID: 2-48034084-T-A

NM_000179.2(MSH6):c.*85T>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: rs2020906
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp003.xlsx, sheet 3
View BVdb publication page



Genetic Variations of Ultraconserved Elements in the Human Genome.

Omics : A Journal Of Integrative Biology
Habic, Anamarija A; Mattick, John S JS; Calin, George Adrian GA; Krese, Rok R; Konc, Janez J; Kunej, Tanja T
Publication Date: 2019-11

Variant appearance in text: rs2020906
PubMed Link: 31689173
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.

Cancer Medicine
Kiyozumi, Yoshimi Y; Matsubayashi, Hiroyuki H; Horiuchi, Yasue Y; Higashigawa, Satomi S; Oishi, Takuma T; Abe, Masato M; Ohnami, Sumiko S; Urakami, Kenichi K; Nagashima, Takeshi T; Kusuhara, Masatoshi M; Miyake, Hidehiko H; Yamaguchi, Ken K
Publication Date: 2019-09

Variant appearance in text: rs2020906
PubMed Link: 31386297
Variant Present in the following documents:
  • CAM4-8-5534-s001.xlsx, sheet 1
View BVdb publication page



A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

Molecular Genetics & Genomic Medicine
Hansen, Maren F MF; Neckmann, Ulrike U; Lavik, Liss A S LA; Vold, Trine T; Gilde, Bodil B; Toft, Ragnhild K RK; Sjursen, Wenche W
Publication Date: 2014-03

Variant appearance in text: rs2020906
PubMed Link: 24689082
Variant Present in the following documents:
  • Main text
  • mgg30002-0186.pdf
View BVdb publication page