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MSH6 c.2979A>G ;(p.E993=)
Variant ID: 2-48028101-A-G
NM_000179.2(
MSH6
):c.2979A>G;(p.E993=)
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:
Advanced adenomas may be a red flag for hereditary cancer syndromes.
Hereditary Cancer In Clinical Practice
Patel, Swati G SG; Hampel, Heather H; Smith, Derek D; Gao, Dexiang D; Cockburn, Myles M; Kastrinos, Fay F
Publication Date: 2021-01-12
Variant appearance in text: MSH6: 2979A>G
PubMed Link:
33436027
Variant Present in the following documents:
13053_2020_Article_164.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: MSH6: 2979A>G
PubMed Link:
30787465
Variant Present in the following documents:
NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page