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BRCA2 c.3114del ;(p.P1039Lfs*4)
Variant ID: 13-32911606-AT-A
NM_000059.3(
BRCA2
):c.3114del;(p.P1039Lfs*4)
This variant was identified in 2 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: 3114del
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s005.xlsx, sheet 2
View BVdb publication page
Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma.
Acta Neurochirurgica
Håvik, Aril Løge AL; Bruland, Ove O; Miletic, Hrvoje H; Poulsgaard, Lars L; Scheie, David D; Fugleholm, Kåre K; Lund-Johansen, Morten M; Knappskog, Per-Morten PM
Publication Date: 2022-02
Variant appearance in text: BRCA2: 3114delT
PubMed Link:
34816314
Variant Present in the following documents:
Main text
701_2021_Article_5062.pdf
View BVdb publication page