BRCA1 c.5193+1602A>C

Variant ID: 17-41213748-T-G

NM_007294.3(BRCA1):c.5193+1602A>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: rs8176267
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Genetic variation of the brca1 and brca2 genes in macedonian patients.

Balkan Journal Of Medical Genetics : Bjmg
Maleva, I I; Madjunkova, S S; Bozhinovski, G G; Smickova, E E; Kondov, G G; Spiroski, Z Z; Arsovski, A A; Plaseska-Karanfilska, D D
Publication Date: 2012-12

Variant appearance in text: rs8176267
PubMed Link: 24052750
Variant Present in the following documents:
  • Main text
  • bjmg-15-02a-81.pdf
View BVdb publication page



Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.

Breast Cancer Research : Bcr
Cox, David G DG; Kraft, Peter P; Hankinson, Susan E SE; Hunter, David J DJ
Publication Date: 2005

Variant appearance in text: rs8176267
PubMed Link: 15743496
Variant Present in the following documents:
  • Main text
  • bcr973.pdf
View BVdb publication page