BRCA1 c.5362_5364delinsAGCGAC ;(p.G1788delinsSD)

Variant ID: 17-41201180-ACC-GTCGCT

NM_007294.3(BRCA1):c.5362_5364delinsAGCGAC;(p.G1788delinsSD)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Scientific Reports
Nepomuceno, Thales C TC; Dos Santos, Ana P P APP; Fernandes, Vanessa C VC; Elias, Anna B R ABR; Gomes, Thiago T TT; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA
Publication Date: 2022-09-28

Variant appearance in text: BRCA1: G1788delinsSD
PubMed Link: 36171434
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_20500.pdf
  • 41598_2022_20500_MOESM1_ESM.pdf
View BVdb publication page



BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.

Frontiers In Cell And Developmental Biology
Fu, Xiaoyu X; Tan, Wei W; Song, Qibin Q; Pei, Huadong H; Li, Juanjuan J
Publication Date: 2022

Variant appearance in text: BRCA1: G1788delinsSD
PubMed Link: 35300412
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 1
View BVdb publication page