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ATM c.5347_5350del ;(p.E1783Tfs*9)
Variant ID: 11-108173603-CAAAG-C
NM_000051.3(
ATM
):c.5347_5350del;(p.E1783Tfs*9)
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:
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: 5347_5350del
PubMed Link:
33840814
Variant Present in the following documents:
41431_2021_878_MOESM2_ESM.xlsx, sheet 3
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: 5347_5350del
PubMed Link:
33840814
Variant Present in the following documents:
41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia.
Case Reports In Genetics
Hettiarachchi, D D; Panchal, Hetalkumar H; Pathirana, B A P S BAPS; Rathnayaka, P D PD; Padeniya, A A; Lai, P S PS; Dissanayake, V H W VHW
Publication Date: 2020
Variant appearance in text: ATM: 5347_5350delGAAA; Glu1783fs
PubMed Link:
33376610
Variant Present in the following documents:
Main text
CRIG2020-6630300.pdf
View BVdb publication page