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APC c.122C>A ;(p.A41E)
Variant ID: 5-112090709-C-A
NM_000038.5(
APC
):c.122C>A;(p.A41E)
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:
A Posteriori Dietary Patterns and Rheumatoid Arthritis Disease Activity: A Beneficial Role of Vegetable and Animal Unsaturated Fatty Acids.
Nutrients
Edefonti, Valeria V; Parpinel, Maria M; Ferraroni, Monica M; Boracchi, Patrizia P; Schioppo, Tommaso T; Scotti, Isabella I; Ubiali, Tania T; Currenti, Walter W; De Lucia, Orazio O; Cutolo, Maurizio M; Caporali, Roberto R; Ingegnoli, Francesca F
Publication Date: 2020-12-17
Variant appearance in text: APC: A41E
PubMed Link:
33348651
Variant Present in the following documents:
Main text
View BVdb publication page
Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.
Frontiers In Genetics
Cavaillé, Mathias M; Ponelle-Chachuat, Flora F; Uhrhammer, Nancy N; Viala, Sandrine S; Gay-Bellile, Mathilde M; Privat, Maud M; Bidet, Yannick Y; Bignon, Yves-Jean YJ
Publication Date: 2018
Variant appearance in text: APC: 122C>A; Ala41Glu
PubMed Link:
30233642
Variant Present in the following documents:
fgene-09-00353.pdf
View BVdb publication page
Clinical Grade "SNaPshot" Genetic Mutation Profiling in Multiple Myeloma.
Ebiomedicine
O'Donnell, Elizabeth E; Mahindra, Anuj A; Yee, Andrew J AJ; Nardi, Valentina V; Birrer, Nicole N; Horick, Nora N; Borger, Darrell D; Finkelstein, Dianne D; Iafrate, John A JA; Raje, Noopur N
Publication Date: 2015-01
Variant appearance in text: APC: 122C>A
PubMed Link:
26137536
Variant Present in the following documents:
mmc1.pdf
View BVdb publication page