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BRCA2 c.7944C>T ;(p.S2648=)
Variant ID: 13-32936798-C-T
NM_000059.3(
BRCA2
):c.7944C>T;(p.S2648=)
This variant was identified in 2 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: BRCA2: 7944C>T
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s002.xlsx, sheet 2
IJC-152-1159-s006.xlsx, sheet 3
View BVdb publication page
BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.
British Journal Of Cancer
Claes, K K; Poppe, B B; Coene, I I; Paepe, A De AD; Messiaen, L L
Publication Date: 2004-03-22
Variant appearance in text: BRCA2: S2648S
PubMed Link:
15026808
Variant Present in the following documents:
Main text
View BVdb publication page