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BRCA2 c.5490C>T ;(p.S1830=)
Variant ID: 13-32913982-C-T
NM_000059.3(
BRCA2
):c.5490C>T;(p.S1830=)
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: 5490C>T
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
Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.
Hereditary Cancer In Clinical Practice
Jalkh, Nadine N; Nassar-Slaba, Jinane J; Chouery, Eliane E; Salem, Nabiha N; Uhrchammer, Nancy N; Golmard, Lisa L; Stoppa-Lyonnet, Domique D; Bignon, Yves-Jean YJ; Mégarbané, André A
Publication Date: 2012-06-19
Variant appearance in text: BRCA2: S1830S
PubMed Link:
22713736
Variant Present in the following documents:
Main text
1897-4287-10-7.pdf
View BVdb publication page