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MSH2 c.1014A>C ;(p.G338=)
Variant ID: 2-47643506-A-C
NM_000251.2(
MSH2
):c.1014A>C;(p.G338=)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.
International Journal Of Molecular Sciences
Wu, Bohua B; Peng, Yunhui Y; Eggert, Julia J; Alexov, Emil E
Publication Date: 2019-09-28
Variant appearance in text: MSH2: G338G
PubMed Link:
31569399
Variant Present in the following documents:
Main text
ijms-20-04828.pdf
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: MSH2: 1014A>C
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: MSH2: 1014A>C; Gly338=
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page