ATM c.5007G>T ;(p.E1669D)

Variant ID: 11-108170442-G-T

NM_000051.3(ATM):c.5007G>T;(p.E1669D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: ATM: 5007G>T; Glu1669Asp
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Identification of BRCA1-like triple-negative breast cancers by quantitative multiplex-ligation-dependent probe amplification (MLPA) analysis of BRCA1-associated chromosomal regions: a validation study.

Bmc Cancer
Gross, Eva E; van Tinteren, Harm H; Li, Zhou Z; Raab, Sandra S; Meul, Christina C; Avril, Stefanie S; Laddach, Nadja N; Aubele, Michaela M; Propping, Corinna C; Gkazepis, Apostolos A; Schmitt, Manfred M; Meindl, Alfons A; Nederlof, Petra M PM; Kiechle, Marion M; Lips, Esther H EH
Publication Date: 2016-10-19

Variant appearance in text: ATM: 5007G>T
PubMed Link: 27756336
Variant Present in the following documents:
  • Main text
  • 12885_2016_Article_2848.pdf
View BVdb publication page