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BRCA1 c.5554_5555del ;(p.T1852Lfs*27)
Variant ID: 17-41197731-GGT-G
NM_007294.3(
BRCA1
):c.5554_5555del;(p.T1852Lfs*27)
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: 5554_5555del; Thr1852Leufs*27
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s010.xlsx, sheet 2
View BVdb publication page
Human BRCA pathogenic variants were originated during recent human history.
Life Science Alliance
Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM
Publication Date: 2022-05
Variant appearance in text: BRCA1: 5554_5555del; T1852Lfs
PubMed Link:
35165121
Variant Present in the following documents:
LSA-2021-01263_TableS2.xlsx, sheet 1
View BVdb publication page
Novel Insights From the Germline Landscape of Breast Cancer in Brazil.
Frontiers In Oncology
Barbalho, Daniel D; Sandoval, Renata R; Santos, Erika E; Pisani, Janina J; Quirino, Carla C; Garicochea, Bernardo B; Rossi, Benedito B; Achatz, Maria Isabel MI
Publication Date: 2021
Variant appearance in text: BRCA1: 5554_5555delAC; Thr1852Leufs*27
PubMed Link:
35155181
Variant Present in the following documents:
Main text
fonc-11-743231.pdf
View BVdb publication page