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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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