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BRCA1 c.4902G>A ;(p.R1634=)
Variant ID: 17-41223029-C-T
NM_007294.3(
BRCA1
):c.4902G>A;(p.R1634=)
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:
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022
Variant appearance in text: rs746199881
PubMed Link:
36561320
Variant Present in the following documents:
Table2.xlsx, sheet 2
View BVdb publication page
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: 4902G>A
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s002.xlsx, sheet 1
IJC-152-1159-s006.xlsx, sheet 2
IJC-152-1159-s009.xlsx, sheet 2
View BVdb publication page
Circulating tumor DNA dynamics in advanced breast cancer treated with CDK4/6 inhibition and endocrine therapy.
Npj Breast Cancer
Martínez-Sáez, Olga O; Pascual, Tomás T; Brasó-Maristany, Fara F; Chic, Nuria N; González-Farré, Blanca B; Sanfeliu, Esther E; Rodríguez, Adela A; Martínez, Débora D; Galván, Patricia P; Rodríguez, Anna Belén AB; Schettini, Francesco F; Conte, Benedetta B; Vidal, Maria M; Adamo, Barbara B; Martínez, Antoni A; Muñoz, Montserrat M; Moreno, Reinaldo R; Villagrasa, Patricia P; Salvador, Fernando F; Ciruelos, Eva M EM; Faull, Iris I; Odegaard, Justin I JI; Prat, Aleix A
Publication Date: 2021-02-03
Variant appearance in text: BRCA1: 4902G>A; R1634R
PubMed Link:
33536433
Variant Present in the following documents:
41523_2021_218_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page