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BRCA1 c.5533_5540del ;(p.Y1845Pfs*32)
Variant ID: 17-41197747-GCACTGGTA-G
NM_007294.3(
BRCA1
):c.5533_5540del;(p.Y1845Pfs*32)
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:
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: BRCA1: Tyr1845Profs*32
PubMed Link:
30702160
Variant Present in the following documents:
IJC-145-962-s008.xlsx, sheet 1
View BVdb publication page
Identification of recurrent BRCA1 mutation and its clinical relevance in Chinese Triple-negative breast cancer cohort.
Cancer Medicine
Liu, Xiaoran X; Li, Huiping H; Shao, Bin B; Wu, Jianmin J; Kong, Weiyao W; Song, Guohong G; Jiang, Hanfang H; Wang, Jing J; Wan, Fengling F
Publication Date: 2017-03
Variant appearance in text: BRCA1: 5533_5540del
PubMed Link:
28135048
Variant Present in the following documents:
Main text
CAM4-6-547.pdf
View BVdb publication page