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MSH6 c.2765del ;(p.R922Qfs*23)
Variant ID: 2-48027887-CG-C
NM_000179.2(
MSH6
):c.2765del;(p.R922Qfs*23)
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:
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: 2765delG; Arg922Glnfs; rs587779247
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.
Hereditary Cancer In Clinical Practice
Talseth-Palmer, Bente A BA; McPhillips, Mary M; Groombridge, Claire C; Spigelman, Allan A; Scott, Rodney J RJ
Publication Date: 2010-05-21
Variant appearance in text: MSH6: 2765delG
PubMed Link:
20487569
Variant Present in the following documents:
Main text
1897-4287-8-5.pdf
View BVdb publication page