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ATM c.4370T>A ;(p.L1457*)
Variant ID: 11-108160462-T-A
NM_000051.3(
ATM
):c.4370T>A;(p.L1457*)
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:
Germline genetic variants in men with prostate cancer and one or more additional cancers.
Cancer
PiliƩ, Patrick G PG; Johnson, Anna M AM; Hanson, Kristen L KL; Dayno, Megan E ME; Kapron, Ashley L AL; Stoffel, Elena M EM; Cooney, Kathleen A KA
Publication Date: 2017-10-15
Variant appearance in text: ATM: L1457X
PubMed Link:
28657667
Variant Present in the following documents:
Main text
View BVdb publication page
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
LaDuca, Holly H; Stuenkel, A J AJ; Dolinsky, Jill S JS; Keiles, Steven S; Tandy, Stephany S; Pesaran, Tina T; Chen, Elaine E; Gau, Chia-Ling CL; Palmaer, Erika E; Shoaepour, Kamelia K; Shah, Divya D; Speare, Virginia V; Gandomi, Stephanie S; Chao, Elizabeth E
Publication Date: 2014-11
Variant appearance in text: ATM: L1457X
PubMed Link:
24763289
Variant Present in the following documents:
gim201440x3.xls, sheet 1
View BVdb publication page