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ATM c.4303A>C ;(p.K1435Q)
Variant ID: 11-108160395-A-C
NM_000051.3(
ATM
):c.4303A>C;(p.K1435Q)
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 computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: ATM: 4303A>C; K1435Q
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Mesonephric-Like Adenocarcinoma of the Endometrium: Diagnostic Advances to Spot This Wolf in Sheep's Clothing. A Review of the Literature.
Journal Of Clinical Medicine
Deolet, Ellen E; Van Dorpe, Jo J; Van de Vijver, Koen K
Publication Date: 2021-02-11
Variant appearance in text: ATM: 4303A>C
PubMed Link:
33670088
Variant Present in the following documents:
Main text
jcm-10-00698.pdf
View BVdb publication page
Mesonephric-like adenocarcinoma of the ovary with co-existent endometriosis: A case report and review of the literature.
Gynecologic Oncology Reports
Seay, Kieran K; Akanbi, Tracey T; Bustamante, Bethany B; Chaudhary, Shweta S; Goldberg, Gary L GL
Publication Date: 2020-11
Variant appearance in text: ATM: 4303A>C
PubMed Link:
33088886
Variant Present in the following documents:
main.pdf
View BVdb publication page