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.




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
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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