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BRCA2 c.5148T>G ;(p.Y1716*)
Variant ID: 13-32913640-T-G
NM_000059.3(
BRCA2
):c.5148T>G;(p.Y1716*)
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:
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
Bmc Cancer
ElBiad, Oubaida O; Laraqui, Abdelilah A; El Boukhrissi, Fatima F; Mounjid, Chaimaa C; Lamsisi, Maryame M; Bajjou, Tahar T; Elannaz, Hicham H; Lahlou, Amine Idriss AI; Kouach, Jaouad J; Benchekroune, Khadija K; Oukabli, Mohammed M; Chahdi, Hafsa H; Ennaji, Moulay Mustapha MM; Tanz, Rachid R; Sbitti, Yassir Y; Ichou, Mohammed M; Ennibi, Khalid K; Badaoui, Bouabid B; Sekhsokh, Yassine Y
Publication Date: 2022-02-25
Variant appearance in text: BRCA2: 5148T>G; Tyr1716Ter
PubMed Link:
35216584
Variant Present in the following documents:
Main text
12885_2022_Article_9181.pdf
View BVdb publication page
Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.
Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020
Variant appearance in text: BRCA2: 5148T>G; Tyr1716X
PubMed Link:
32377563
Variant Present in the following documents:
41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Mutations in context: implications of BRCA testing in diverse populations.
Familial Cancer
Felix, Gabriela E S GES; Zheng, Yonglan Y; Olopade, Olufunmilayo I OI
Publication Date: 2018-10
Variant appearance in text: BRCA2: 5148T>G
PubMed Link:
28918466
Variant Present in the following documents:
Main text
View BVdb publication page