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BRCA1 c.1717del ;(p.S573Hfs*15)
Variant ID: 17-41245831-GA-G
NM_007294.3(
BRCA1
):c.1717del;(p.S573Hfs*15)
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:
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: 1717del; Ser573Hisfs*15
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s002.xlsx, sheet 1
IJC-152-1159-s006.xlsx, sheet 2
View BVdb publication page
BRCA mutation screening and patterns among high-risk Lebanese subjects.
Hereditary Cancer In Clinical Practice
Farra, Chantal C; Dagher, Christelle C; Badra, Rebecca R; Hammoud, Miza Salim MS; Alameddine, Raafat R; Awwad, Johnny J; Seoud, Muhieddine M; Abbas, Jaber J; Boulos, Fouad F; El Saghir, Nagi N; Mukherji, Deborah D
Publication Date: 2019
Variant appearance in text: BRCA1: 1717_1717delT; Ser573HisFs
PubMed Link:
30675319
Variant Present in the following documents:
Main text
13053_2019_Article_105.pdf
View BVdb publication page