Bibliome.ai browser hg19
Search
About
Stats
FAQ
BRCA1 c.5439del ;(p.D1813Efs*21)
Variant ID: 17-41199688-CA-C
NM_007294.3(
BRCA1
):c.5439del;(p.D1813Efs*21)
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: BRCA1: 5439del; Asp1813Glufs*21
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s002.xlsx, sheet 1
IJC-152-1159-s006.xlsx, sheet 2
View BVdb publication page
Identifying Sequence Variants of 18 Hereditary Ovarian Cancer-Associated Genes in Chinese Epithelial Ovarian Cancer Patients.
Biomed Research International
Wu, Xiao X; Chen, Zhengzheng Z; Ren, Pingping P; Zhao, Xuxu X; Tang, Dongdong D; Geng, Hao H; Xu, Xiaofeng X; Zhao, Weidong W
Publication Date: 2021
Variant appearance in text: BRCA1: 5439delT; Asp1813Glufs
PubMed Link:
34350294
Variant Present in the following documents:
Main text
BMRI2021-5579543.pdf
View BVdb publication page
Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.
Biological Research
Jara, Lilian L; Morales, Sebastian S; de Mayo, Tomas T; Gonzalez-Hormazabal, Patricio P; Carrasco, Valentina V; Godoy, Raul R
Publication Date: 2017-10-06
Variant appearance in text: BRCA1: 5439delT
PubMed Link:
28985766
Variant Present in the following documents:
40659_2017_139_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page