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BRCA1 c.2229T>C ;(p.N743=)
Variant ID: 17-41245319-A-G
NM_007294.3(
BRCA1
):c.2229T>C;(p.N743=)
This variant was identified in 6 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: 2229T>C
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s001.xlsx, sheet 3
View BVdb publication page
Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.
Journal Of Gynecologic Oncology
Ha, Hyeong In HI; Ryu, Jin Sun JS; Shim, Hyoeun H; Kong, Sun Young SY; Lim, Myong Cheol MC
Publication Date: 2020-11
Variant appearance in text: BRCA1: 2229T>C
PubMed Link:
33078592
Variant Present in the following documents:
jgo-31-e83-s009.xls, sheet 1
jgo-31-e83-s008.xls, sheet 1
View BVdb publication page
Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.
Bmc Cancer
Dodova, Rumyana Ivanova RI; Mitkova, Atanaska Velichkova AV; Dacheva, Daniela Rosenova DR; Hadjo, Lina Basam LB; Vlahova, Alexandrina Ivanova AI; -Hadjieva, Margarita Stoyanova Taushanova MST; Valev, Spartak Stoyanov SS; Caulevska, Marija Mitko MM; Popova, Stanislava Dimitrova SD; Popov, Ivan Emilov IE; Dikov, Tihomir Iliichev TI; Sedloev, Theophil Angelov TA; Ionkov, Atanas Stefanov AS; Timcheva, Konstanta Velinova KV; Christova, Svetlana Liubomirova SL; Kremensky, Ivo Marinov IM; Mitev, Vanio Ivanov VI; Kaneva, Radka Petrova RP
Publication Date: 2015-07-17
Variant appearance in text: BRCA1: 2229T>C
PubMed Link:
26183948
Variant Present in the following documents:
12885_2015_Article_1516.pdf
View BVdb publication page
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.
Bmc Medical Genetics
Stegel, Vida V; Krajc, Mateja M; Zgajnar, Janez J; Teugels, Erik E; De Grève, Jacques J; Hočevar, Marko M; Novaković, Srdjan S
Publication Date: 2011-01-14
Variant appearance in text: BRCA1: 2229T>C
PubMed Link:
21232165
Variant Present in the following documents:
1471-2350-12-9.pdf
View BVdb publication page
BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.
Plos One
Toh, Gaik Theng GT; Kang, Peter P; Lee, Sharlene S W SS; Lee, Daphne Shin-Chi DS; Lee, Sheau Yee SY; Selamat, Suhaida S; Mohd Taib, Nur Aishah NA; Yoon, Sook-Yee SY; Yip, Cheng Har CH; Teo, Soo-Hwang SH
Publication Date: 2008-04-23
Variant appearance in text: BRCA1: 2229T>C
PubMed Link:
18431501
Variant Present in the following documents:
Main text
View BVdb publication page