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MSH6 c.2030G>C ;(p.S677T)
Variant ID: 2-48027152-G-C
NM_000179.2(
MSH6
):c.2030G>C;(p.S677T)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 2030G>C; Ser677Thr; rs587779224
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Toward automation of germline variant curation in clinical cancer genetics.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09
Variant appearance in text: MSH6: 2030G>C; Ser677Thr
PubMed Link:
30787465
Variant Present in the following documents:
NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: MSH6: 2030G>C; Ser677Thr
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page
Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.
Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12
Variant appearance in text: MSH6: S677T
PubMed Link:
27001614
Variant Present in the following documents:
NIHMS753666-supplement-2.xlsx, sheet 4
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: MSH6: S677T
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.
Human Mutation
Kantelinen, Jukka J; Kansikas, Minttu M; Candelin, Satu S; Hampel, Heather H; Smith, Betsy B; Holm, Liisa L; Kariola, Reetta R; Nyström, Minna M
Publication Date: 2012-08
Variant appearance in text: MSH6: 2030G>C; Ser677Thr
PubMed Link:
22581703
Variant Present in the following documents:
Main text
View BVdb publication page