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BRCA2 c.6116T>A ;(p.L2039*)
Variant ID: 13-32914608-T-A
NM_000059.3(
BRCA2
):c.6116T>A;(p.L2039*)
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:
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17
Variant appearance in text: BRCA2: 6116T>A; Leu2039Ter
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s006.xlsx, sheet 3
IJC-152-1159-s002.xlsx, sheet 2
IJC-152-1159-s010.xlsx, sheet 5
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: 6116T>A; Leu2039X
PubMed Link:
32377563
Variant Present in the following documents:
41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan.
Bmc Cancer
Abdel-Razeq, Hikmat H; Al-Omari, Amal A; Zahran, Farah F; Arun, Banu B
Publication Date: 2018-02-06
Variant appearance in text: BRCA2: L2039X
PubMed Link:
29409476
Variant Present in the following documents:
Main text
12885_2018_Article_4079.pdf
View BVdb publication page