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APC c.497dup ;(p.K167*)
Variant ID: 5-112111399-A-AC
NM_000038.5(
APC
):c.497dup;(p.K167*)
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:
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.
European Journal Of Human Genetics : Ejhg
Baert-Desurmont, Stéphanie S; Coutant, Sophie S; Charbonnier, Françoise F; Macquere, Pierre P; Lecoquierre, François F; Schwartz, Mathias M; Blanluet, Maud M; Vezain, Myriam M; Lanos, Raphaël R; Quenez, Olivier O; Bou, Jacqueline J; Bouvignies, Emilie E; Fourneaux, Steeve S; Manase, Sandrine S; Vasseur, Stéphanie S; Mauillon, Jacques J; Gerard, Marion M; Marlin, Régine R; Bougeard, Gaëlle G; Tinat, Julie J; Frebourg, Thierry T; Tournier, Isabelle I
Publication Date: 2018-11
Variant appearance in text: APC: 497dup; Lys167*
PubMed Link:
29967336
Variant Present in the following documents:
Main text
View BVdb publication page