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BRCA1 c.*1292T>C
Variant ID: 17-41196403-A-G
NM_007294.3(
BRCA1
):c.*1292T>C
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: rs182218567
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s002.xlsx, sheet 1
View BVdb publication page
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Scientific Reports
Chirita-Emandi, Adela A; Andreescu, Nicoleta N; Zimbru, Cristian G CG; Tutac, Paul P; Arghirescu, Smaranda S; Serban, Margit M; Puiu, Maria M
Publication Date: 2020-01-14
Variant appearance in text: rs182218567
PubMed Link:
31937788
Variant Present in the following documents:
41598_2019_57080_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Identification and frequency of the rs12516 and rs8176318 BRCA1 gene polymorphisms among different populations.
Oncology Letters
Yang, Fang F; Chen, Fengxia F; Xu, Jin J; Guan, Xiaoxiang X
Publication Date: 2016-04
Variant appearance in text: rs182218567
PubMed Link:
27073502
Variant Present in the following documents:
Main text
View BVdb publication page