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APC c.607del ;(p.Q203Nfs*2)
Variant ID: 5-112116562-AC-A
NM_000038.5(
APC
):c.607del;(p.Q203Nfs*2)
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:
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Hereditary Cancer In Clinical Practice
Friedl, Waltraut W; Aretz, Stefan S
Publication Date: 2005-09-15
Variant appearance in text: APC: 607delC; Gln203fs
PubMed Link:
20223039
Variant Present in the following documents:
Main text
1897-4287-3-3-95.pdf
View BVdb publication page
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.
Bmc Medicine
Kanter-Smoler, Gunilla G; Fritzell, Kaisa K; Rohlin, Anna A; Engwall, Yvonne Y; Hallberg, Birgitta B; Bergman, Annika A; Meuller, Johan J; Grönberg, Henrik H; Karlsson, Per P; Björk, Jan J; Nordling, Margareta M
Publication Date: 2008-04-24
Variant appearance in text: N/A
PubMed Link:
18433509
Variant Present in the following documents:
View BVdb publication page