BRCA1 c.5193+1590G>A

Variant ID: 17-41213760-C-T

NM_007294.3(BRCA1):c.5193+1590G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: BRCA1: 5193+1590G>A; rs8176266
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs8176266
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Common variation in BRCA1 may have a role in progression to lethal prostate cancer after radiation treatment.

Prostate Cancer And Prostatic Diseases
Sanchez, A A; Schoenfeld, J D JD; Nguyen, P L PL; Fiorentino, M M; Chowdhury, D D; Stampfer, M J MJ; Sesso, H D HD; Giovannucci, E E; Mucci, L A LA; Shui, I M IM
Publication Date: 2016-06

Variant appearance in text: rs8176266
PubMed Link: 26926928
Variant Present in the following documents:
  • Main text
View BVdb publication page