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APC c.1957_1958delinsTA ;(p.R653*)
Variant ID: 5-112170861-AG-TA
NM_000038.5(
APC
):c.1957_1958delinsTA;(p.R653*)
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:
Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.
Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10
Variant appearance in text: APC: Arg653*
PubMed Link:
30981987
Variant Present in the following documents:
jmedgenet-2018-105825supp002.xlsx, sheet 3
View BVdb publication page
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: Arg653*
PubMed Link:
20223039
Variant Present in the following documents:
Main text
1897-4287-3-3-95.pdf
View BVdb publication page