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BRCA1 c.3621del ;(p.K1208Nfs*2)
Variant ID: 17-41243927-TC-T
NM_007294.3(
BRCA1
):c.3621del;(p.K1208Nfs*2)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Plos One
Rao, Nandana D ND; Shirts, Brian H BH
Publication Date: 2023
Variant appearance in text: BRCA1: 3621del
PubMed Link:
36753473
Variant Present in the following documents:
pone.0278010.s002.xlsx, sheet 1
View BVdb publication page
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: 3621del; Lys1208Asnfs*2
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s006.xlsx, sheet 2
IJC-152-1159-s010.xlsx, sheet 4
IJC-152-1159-s002.xlsx, sheet 1
IJC-152-1159-s010.xlsx, sheet 1
IJC-152-1159-s011.xlsx, sheet 1
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: BRCA1: 3621del; Lys1208Asnfs
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page
Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.
Oncology Letters
Wei, Hongyi H; Wang, Minghao M; Ou, Jianghua J; Jiang, Weihua W; Tian, Fuguo F; Sheng, Yuan Y; Li, Hengyu H; Xu, Hong H; Zhang, Ruishan R; Guan, Aihua A; Wang, Changqing C; Jiang, Hongchuan H; Ren, Yu Y; He, Jianjun J; Liu, Jian J; Huang, Weiwei W; Liao, Ning N; Cai, Xiangjun X; Ming, Jia J; Ling, Rui R; Xu, Yan Y; Hu, Chunyan C; Zhang, Jianguo J; Guo, Baoliang B; Ouyang, Lizhi L; Shuai, Ping P; Liu, Zhenzhen Z; Zhong, Ling L; Jing, Ruilin R; Zeng, Zhen Z; Zhang, Meng M; Zhang, Ting T; Xuan, Zhaoling Z; Tan, Xuanni X; Liang, Junbin J; Pan, Qinwen Q; Chen, Li L; Zhang, Fan F; Fan, Linjun L; Zhang, Yi Y; Yang, Xinhua X; Li, Jingbo J; Chen, Chongjian C; Jiang, Jun J
Publication Date: 2018-06
Variant appearance in text: BRCA1: 3621del
PubMed Link:
29805665
Variant Present in the following documents:
Main text
View BVdb publication page