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ATM c.1141_1143delinsTGA ;(p.S381*)
Variant ID: 11-108119735-AGT-TGA
NM_000051.3(
ATM
):c.1141_1143delinsTGA;(p.S381*)
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:
Evaluation of ATM heterozygous mutations underlying individual differences in radiosensitivity using genome editing in human cultured cells.
Scientific Reports
Royba, Ekaterina E; Miyamoto, Tatsuo T; Natsuko Akutsu, Silvia S; Hosoba, Kosuke K; Tauchi, Hiroshi H; Kudo, Yoshiki Y; Tashiro, Satoshi S; Yamamoto, Takashi T; Matsuura, Shinya S
Publication Date: 2017-07-20
Variant appearance in text: ATM: S381X
PubMed Link:
28729543
Variant Present in the following documents:
Main text
41598_2017_Article_6393.pdf
View BVdb publication page
Ancient and recent adaptive evolution of primate non-homologous end joining genes.
Plos Genetics
Demogines, Ann A; East, Alysia M AM; Lee, Ji-Hoon JH; Grossman, Sharon R SR; Sabeti, Pardis C PC; Paull, Tanya T TT; Sawyer, Sara L SL
Publication Date: 2010-10-21
Variant appearance in text: ATM: S381*
PubMed Link:
20975951
Variant Present in the following documents:
pgen.1001169.pdf
View BVdb publication page