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BRCA2 c.5490C>G ;(p.S1830=)
Variant ID: 13-32913982-C-G
NM_000059.3(
BRCA2
):c.5490C>G;(p.S1830=)
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: BRCA2: 5490C>G; rs786201459
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
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04
Variant appearance in text: BRCA2: 5490C>G; Ser1830Ser
PubMed Link:
30287823
Variant Present in the following documents:
41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
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