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APC c.147A>T ;(p.K49N)
Variant ID: 5-112102034-A-T
NM_000038.5(
APC
):c.147A>T;(p.K49N)
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:
Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
Bmc Medical Genetics
Gómez-Fernández, Nuria N; Castellví-Bel, Sergi S; Fernández-Rozadilla, Ceres C; Balaguer, Francesc F; Muñoz, Jenifer J; Madrigal, Irene I; Milà, Montserrat M; Graña, Begoña B; Vega, Ana A; Castells, Antoni A; Carracedo, Angel A; Ruiz-Ponte, Clara C
Publication Date: 2009-06-16
Variant appearance in text: APC: Lys49Asn
PubMed Link:
19531215
Variant Present in the following documents:
Main text
View BVdb publication page