ATM c.544G>A ;(p.V182I)

Variant ID: 11-108114727-G-A

NM_000051.3(ATM):c.544G>A;(p.V182I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Circulating tumour DNA analysis predicts relapse and improves risk stratification in primary refractory multiple myeloma.

Blood Cancer Journal
Mithraprabhu, Sridurga S; Reynolds, John J; Turner, Rose R; Quach, Hang H; Horvath, Noemi N; Kerridge, Ian I; Kalff, Anna A; Bergin, Krystal K; Hocking, Jay J; Yuen, Flora F; Khong, Tiffany T; Durie, Brian M BM; Spencer, Andrew A
Publication Date: 2023-02-13

Variant appearance in text: ATM: 544G>A
PubMed Link: 36781844
Variant Present in the following documents:
  • 41408_2023_796_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: ATM: V182I
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



A study of splicing mutations in disorders of sex development.

Scientific Reports
de Calais, Flavia Leme FL; Smith, Lindsay D LD; Raponi, Michela M; Maciel-Guerra, Andréa Trevas AT; Guerra-Junior, Gil G; de Mello, Maricilda Palandi MP; Baralle, Diana D
Publication Date: 2017-11-24

Variant appearance in text: ATM: 544G>A
PubMed Link: 29176693
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_16296.pdf
View BVdb publication page