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APC c.1317del ;(p.A440Lfs*14)
Variant ID: 5-112157597-CA-C
NM_000038.5(
APC
):c.1317del;(p.A440Lfs*14)
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 distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis.
Bmc Medical Genomics
Wanitsuwan, Worrawit W; Vijasika, Sukanya S; Jirarattanasopa, Pichai P; Horpaopan, Sukanya S
Publication Date: 2021-03-19
Variant appearance in text: APC: 1317delA
PubMed Link:
33740971
Variant Present in the following documents:
Main text
12920_2021_Article_933.pdf
View BVdb publication page
Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.
Journal Of Cancer
Liu, Qiang Q; Tan, Yue-Qiu YQ
Publication Date: 2019
Variant appearance in text: APC: 1317delA
PubMed Link:
30719162
Variant Present in the following documents:
Main text
View BVdb publication page
A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.
Molecular Medicine Reports
Pang, Minghui M; Liu, Yijun Y; Hou, Xiaolin X; Yang, Jialiang J; He, Xuelai X; Hou, Nengyi N; Liu, Peixi P; Liang, Luo L; Fu, Junwen J; Wang, Kang K; Ye, Zimeng Z; Gong, Bo B
Publication Date: 2018-08
Variant appearance in text: APC: 1317delA
PubMed Link:
29901124
Variant Present in the following documents:
Main text
mmr-18-02-1423.pdf
View BVdb publication page