Bibliome.ai browser hg19
Search
About
Stats
FAQ
MSH6 c.1444C>A ;(p.R482=)
Variant ID: 2-48026566-C-A
NM_000179.2(
MSH6
):c.1444C>A;(p.R482=)
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:
Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.
Molecular Genetics & Genomic Medicine
Xavier, Alexandre A; Olsen, Maren Fridtjofsen MF; Lavik, Liss A LA; Johansen, Jostein J; Singh, Ashish Kumar AK; Sjursen, Wenche W; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-08
Variant appearance in text: rs63750909
PubMed Link:
31297992
Variant Present in the following documents:
Main text
MGG3-7-e850.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: 1444C>A
PubMed Link:
30787465
Variant Present in the following documents:
NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page