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MSH6 c.748_749del ;(p.V250Hfs*5)
Variant ID: 2-48025870-GGT-G
NM_000179.2(
MSH6
):c.748_749del;(p.V250Hfs*5)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
DNA methylation reveals distinct cells of origin for pancreatic neuroendocrine carcinomas and pancreatic neuroendocrine tumors.
Genome Medicine
Simon, Tincy T; Riemer, Pamela P; Jarosch, Armin A; Detjen, Katharina K; Di Domenico, Annunziata A; Bormann, Felix F; Menne, Andrea A; Khouja, Slim S; Monjé, Nanna N; Childs, Liam H LH; Lenze, Dido D; Leser, Ulf U; Rossner, Florian F; Morkel, Markus M; Blüthgen, Nils N; Pavel, Marianne M; Horst, David D; Capper, David D; Marinoni, Ilaria I; Perren, Aurel A; Mamlouk, Soulafa S; Sers, Christine C
Publication Date: 2022-03-01
Variant appearance in text: MSH6: V250Hfs*5
PubMed Link:
35227293
Variant Present in the following documents:
13073_2022_1018_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page