ATM c.5092A>T ;(p.K1698*)

Variant ID: 11-108170527-A-T

NM_000051.3(ATM):c.5092A>T;(p.K1698*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).

Bmc Cancer
El Ansari, Fatima Zahra FZ; Jouali, Farah F; Marchoudi, Nabila N; Bennani, Mohcine Mechita MM; Ghailani, Naima Nourouti NN; Barakat, Amina A; Fekkak, Jamal J
Publication Date: 2020-08-10

Variant appearance in text: ATM: Lys1698X
PubMed Link: 32778078
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_7250.pdf
View BVdb publication page



Genomic alterations in patients with somatic loss of the Y chromosome as the sole cytogenetic finding in bone marrow cells.

Haematologica
Ouseph, Madhu M MM; Hasserjian, Robert P RP; Dal Cin, Paola P; Lovitch, Scott B SB; Steensma, David P DP; Nardi, Valentina V; Weinberg, Olga K OK
Publication Date: 2021-02-01

Variant appearance in text: ATM: 5092A>T; K1698*
PubMed Link: 32193254
Variant Present in the following documents:
  • 2019_240689_OUSEPH_SUPPL.pdf
View BVdb publication page



BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.

Disease Markers
Laraqui, Abdelilah A; Uhrhammer, Nancy N; Rhaffouli, Hicham E L HE; Sekhsokh, Yassine Y; Lahlou-Amine, Idriss I; Bajjou, Tahar T; Hilali, Farida F; El Baghdadi, Jamila J; Al Bouzidi, Abderrahmane A; Bakri, Youssef Y; Amzazi, Said S; Bignon, Yves-Jean YJ
Publication Date: 2015

Variant appearance in text: ATM: Lys1698X
PubMed Link: 25814778
Variant Present in the following documents:
  • Main text
  • DM2015-194293.pdf
View BVdb publication page