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BRCA1 c.4870_4871insA ;(p.G1624Efs*3)
Variant ID: 17-41223060-C-CT
NM_007294.3(
BRCA1
):c.4870_4871insA;(p.G1624Efs*3)
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: BRCA1: 4870_4871insA; Gly1624Glufs*3
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s010.xlsx, sheet 4
IJC-152-1159-s006.xlsx, sheet 2
IJC-152-1159-s010.xlsx, sheet 1
IJC-152-1159-s002.xlsx, sheet 1
IJC-152-1159-s011.xlsx, sheet 1
View BVdb publication page
Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
Oncotarget
Hirasawa, Akira A; Imoto, Issei I; Naruto, Takuya T; Akahane, Tomoko T; Yamagami, Wataru W; Nomura, Hiroyuki H; Masuda, Kiyoshi K; Susumu, Nobuyuki N; Tsuda, Hitoshi H; Aoki, Daisuke D
Publication Date: 2017-12-22
Variant appearance in text: BRCA1: 4870_4871insA; Gly1624Glufs
PubMed Link:
29348823
Variant Present in the following documents:
Main text
View BVdb publication page