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BRCA2 c.2188_2189insC ;(p.K730Tfs*21)
Variant ID: 13-32910680-A-AC
NM_000059.3(
BRCA2
):c.2188_2189insC;(p.K730Tfs*21)
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: 2188_2189insC; Lys730Thrfs*21
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
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15
Variant appearance in text: BRCA2: 2188_2189insC
PubMed Link:
30702160
Variant Present in the following documents:
Main text
IJC-145-962.pdf
IJC-145-962-s008.xlsx, sheet 1
View BVdb publication page
Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.
Journal Of Gynecologic Oncology
Zhao, Qianying Q; Yang, Jiaxin J; Li, Lei L; Cao, Dongyan D; Yu, Mei M; Shen, Keng K; ,
Publication Date: 2017-07
Variant appearance in text: BRCA2: 2188_2189insC
PubMed Link:
28541631
Variant Present in the following documents:
Main text
jgo-28-e39.pdf
View BVdb publication page