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ATM c.733G>A ;(p.V245I)
Variant ID: 11-108115585-G-A
NM_000051.3(
ATM
):c.733G>A;(p.V245I)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
MR imaging phenotypes and features associated with pathogenic mutation to predict recurrence or metastasis in breast cancer.
Bmc Cancer
Shao, Zhenzhen Z; Yu, Jinpu J; Cheng, Yanan Y; Ma, Wenjuan W; Liu, Peifang P; Lu, Hong H
Publication Date: 2023-01-27
Variant appearance in text: ATM: 733G>A
PubMed Link:
36707770
Variant Present in the following documents:
12885_2023_Article_10555.pdf
View BVdb publication page
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: 733G>A; Val245Ile
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08
Variant appearance in text: ATM: 733G>A
PubMed Link:
33840814
Variant Present in the following documents:
41431_2021_Article_878.pdf
View BVdb publication page
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08
Variant appearance in text: ATM: 733G>A
PubMed Link:
33840814
Variant Present in the following documents:
41431_2021_Article_878.pdf
View BVdb publication page
Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.
Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11
Variant appearance in text: ATM: 733G>A; V245I
PubMed Link:
33252848
Variant Present in the following documents:
CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page
Clinical and genetic characterization of hereditary breast cancer in a Chinese population.
Hereditary Cancer In Clinical Practice
Jian, Wenjing W; Shao, Kang K; Qin, Qi Q; Wang, Xiaohong X; Song, Shufen S; Wang, Xianming X
Publication Date: 2017
Variant appearance in text: ATM: 733G>A
PubMed Link:
29093764
Variant Present in the following documents:
13053_2017_Article_79.pdf
View BVdb publication page