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APC c.423_481del ;(p.S142Tfs*6)
Variant ID: 5-112111326-GGTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTC-G
NM_000038.5(
APC
):c.423_481del;(p.S142Tfs*6)
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:
Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis.
Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Wang, Dan D; Zhang, Zhao Z; Li, Yuwei Y; Xu, Chen C; Yu, Yongjun Y; Li, Mingsen M; Chen, Chao C; Zhang, Xipeng X
Publication Date: 2019-05-22
Variant appearance in text: APC: 423_8532del
PubMed Link:
31113927
Variant Present in the following documents:
Main text
medscimonit-25-3796.pdf
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: 423_8532del
PubMed Link:
29901124
Variant Present in the following documents:
Main text
mmr-18-02-1423.pdf
View BVdb publication page
A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis.
Oncotarget
Zhang, Zhao Z; Liang, Shengran S; Huang, Hui H; Wang, Dan D; Zhang, Xipeng X; Wu, Jing J; Chen, Huishuang H; Wang, Yanyan Y; Rong, Tingting T; Zhou, Yulin Y; Banerjee, Santasree S
Publication Date: 2016-08-02
Variant appearance in text: APC: 423_8532del
PubMed Link:
27391059
Variant Present in the following documents:
Main text
oncotarget-07-50392.pdf
View BVdb publication page