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SIGLEC8 c.1225A>G ;(p.I409V)
Variant ID: 19-51957493-T-C
NM_014442.2(
SIGLEC8
):c.1225A>G;(p.I409V)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28
Variant appearance in text: SIGLEC8: I409V
PubMed Link:
31253177
Variant Present in the following documents:
13073_2019_654_MOESM2_ESM.xlsx, sheet 24
View BVdb publication page
Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.
Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12
Variant appearance in text: SIGLEC8: I409V; rs140402033
PubMed Link:
27001614
Variant Present in the following documents:
NIHMS753666-supplement-2.xlsx, sheet 4
View BVdb publication page