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BRCA1 c.4705_4706insTGGAATC ;(p.S1569Mfs*7)
Variant ID: 17-41223225-C-CGATTCCA
NM_007294.3(
BRCA1
):c.4705_4706insTGGAATC;(p.S1569Mfs*7)
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: BRCA1: 4705_4706insTGGAATC; Ser1569Metfs*7
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s006.xlsx, sheet 2
IJC-152-1159-s002.xlsx, sheet 1
View BVdb publication page
Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology.
Jco Global Oncology
Malhotra, Hemant H; Kowtal, Pradnya P; Mehra, Nikita N; Pramank, Raja R; Sarin, Rajiv R; Rajkumar, Thangarajan T; Gupta, Sudeep S; Bapna, Ajay A; Bhattacharyya, Gouri Shankar GS; Gupta, Sabhyata S; Maheshwari, Amita A; Mannan, Ashraf U AU; Reddy Kundur, Ravindra R; Sekhon, Rupinder R; Singhal, Manish M; Smruti, B K BK; Sp, Somashekhar S; Suryavanshi, Moushumi M; Verma, Amit A
Publication Date: 2020-07
Variant appearance in text: BRCA1: 4705_4706insTGGAATC
PubMed Link:
32628584
Variant Present in the following documents:
JGO.19.00381.pdf
View BVdb publication page
Molecular genetics analysis of hereditary breast and ovarian cancer patients in India.
Hereditary Cancer In Clinical Practice
Soumittra, Nagasamy N; Meenakumari, Balaiah B; Parija, Tithi T; Sridevi, Veluswami V; Nancy, Karunakaran N KN; Swaminathan, Rajaraman R; Rajalekshmy, Kamalalayam R KR; Majhi, Urmila U; Rajkumar, Thangarajan T
Publication Date: 2009-08-06
Variant appearance in text: BRCA1: 4705_4706insTGGAATC
PubMed Link:
19656415
Variant Present in the following documents:
Main text
1897-4287-7-13.pdf
View BVdb publication page