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APC c.7406C>T ;(p.S2469F)
Variant ID: 5-112178697-C-T
NM_000038.5(
APC
):c.7406C>T;(p.S2469F)
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:
Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.
Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21
Variant appearance in text: APC: S2469F
PubMed Link:
29245953
Variant Present in the following documents:
oncotarget-08-99966-s003.xlsx, sheet 3
View BVdb publication page
Germline Missense Changes in the APC Gene and Their Relationship to Disease.
Hereditary Cancer In Clinical Practice
Scott, Rodney J RJ; Crooks, Renee R; Rose, Lindy L; Attia, John J; Thakkinstian, Ammarin A; Thomas, Lesley L; Spigelman, Allan D AD; Meldrum, Cliff J CJ
Publication Date: 2004-05-15
Variant appearance in text: APC: S2469F
PubMed Link:
20233475
Variant Present in the following documents:
Main text
1897-4287-2-2-81.pdf
View BVdb publication page