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POLE c.140_141delinsAT ;(p.R47H)
Variant ID: 12-133257787-CC-AT
NM_006231.2(
POLE
):c.140_141delinsAT;(p.R47H)
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:
ALDH2 gene rs671 G > a polymorphism and the risk of colorectal cancer: A hospital-based study.
Journal Of Clinical Laboratory Analysis
Zhang, Zhuoxin Z; Chen, Yijin Y; Zhuo, Qingqing Q; Deng, Changqing C; Yang, Yang Y; Luo, Wen W; Lai, Shixun S; Rao, Hui H
Publication Date: 2022-11-25
Variant appearance in text: POLE: Arg47His
PubMed Link:
36426922
Variant Present in the following documents:
JCLA-36-e24789.pdf
View BVdb publication page
Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.
Scientific Reports
Fransson, Susanne S; Martinez-Monleon, Angela A; Johansson, Mathias M; Sjöberg, Rose-Marie RM; Björklund, Caroline C; Ljungman, Gustaf G; Ek, Torben T; Kogner, Per P; Martinsson, Tommy T
Publication Date: 2020-12-31
Variant appearance in text: POLE: R47H
PubMed Link:
33384420
Variant Present in the following documents:
Main text
View BVdb publication page