BRCA1 c.3847_3848del ;(p.H1283Sfs*3)

Variant ID: 17-41243699-ATG-A

NM_007294.3(BRCA1):c.3847_3848del;(p.H1283Sfs*3)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Relationship between homologous recombination deficiency and clinical features of breast cancer based on genomic scar score.

Breast (Edinburgh, Scotland)
Feng, Cong C; Zhang, Yinbin Y; Wu, Fei F; Li, Jia J; Liu, Mengjie M; Lv, Wei W; Li, Chaofan C; Wang, Weiwei W; Tan, Qinghua Q; Xue, Xiaoyu X; Ma, Xingcong X; Zhang, Shuqun S
Publication Date: 2023-04-21

Variant appearance in text: BRCA1: 3847_3848del
PubMed Link: 37116400
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review.

Hereditary Cancer In Clinical Practice
Loza, P P; Irmejs, A A; Daneberga, Z Z; Miklasevics, E E; Berga-Svitina, E E; Subatniece, S S; Maksimenko, J J; Trofimovics, G G; Tauvena, E E; Ukleikins, S S; Gardovskis, J J
Publication Date: 2021-01-19

Variant appearance in text: BRCA1: 3847_3848del
PubMed Link: 33468216
Variant Present in the following documents:
  • 13053_2021_Article_168.pdf
View BVdb publication page