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MSH6 c.1295T>G ;(p.F432C)
Variant ID: 2-48026417-T-G
NM_000179.2(
MSH6
):c.1295T>G;(p.F432C)
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:
Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas.
Genome Medicine
Buckley, Alexandra R AR; Ideker, Trey T; Carter, Hannah H; Harismendy, Olivier O; Schork, Nicholas J NJ
Publication Date: 2018-09-14
Variant appearance in text: MSH6: F432C
PubMed Link:
30217226
Variant Present in the following documents:
Main text
13073_2018_Article_579.pdf
13073_2018_579_MOESM1_ESM.pdf
View BVdb publication page
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04
Variant appearance in text: MSH6: F432C
PubMed Link:
29684080
Variant Present in the following documents:
pgen.1007352.s008.xlsx, sheet 1
View BVdb publication page