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BRCA1 c.1008del ;(p.E337Kfs*4)
Variant ID: 17-41246540-CT-C
NM_007294.3(
BRCA1
):c.1008del;(p.E337Kfs*4)
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: 1008del; Glu337Lysfs*4
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s002.xlsx, sheet 1
IJC-152-1159-s006.xlsx, sheet 2
IJC-152-1159-s001.xlsx, sheet 2
View BVdb publication page
BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01
Variant appearance in text: BRCA1: 1008del
PubMed Link:
35000471
Variant Present in the following documents:
sj-pdf-3-imr-10.1177_03000605211070757.pdf
View BVdb publication page
BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01
Variant appearance in text: BRCA1: 1008del
PubMed Link:
35000471
Variant Present in the following documents:
sj-pdf-3-imr-10.1177_03000605211070757.pdf
View BVdb publication page
Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.
Hereditary Cancer In Clinical Practice
Rashid, Muhammad Usman MU; Muhammad, Noor N; Naeemi, Humaira H; Khan, Faiz Ali FA; Hassan, Mariam M; Faisal, Saima S; Gull, Sidra S; Amin, Asim A; Loya, Asif A; Hamann, Ute U
Publication Date: 2019
Variant appearance in text: BRCA1: 1008del; Glu337Lysfs*4
PubMed Link:
31528241
Variant Present in the following documents:
Main text
13053_2019_Article_125.pdf
View BVdb publication page