Bibliome.ai browser hg19
Search
About
Stats
FAQ
BRCA2 c.669T>C ;(p.H223=)
Variant ID: 13-32903617-T-C
NM_000059.3(
BRCA2
):c.669T>C;(p.H223=)
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: 669T>C
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s006.xlsx, sheet 3
IJC-152-1159-s002.xlsx, sheet 2
View BVdb publication page
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.
Genome Medicine
Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A
Publication Date: 2021-11-09
Variant appearance in text: BRCA2: 669T>C; His223=
PubMed Link:
34749799
Variant Present in the following documents:
13073_2021_976_MOESM1_ESM.pdf
View BVdb publication page