BRCA1 c.5254_5255delinsAG ;(p.A1752R)

Variant ID: 17-41209091-GC-CT

NM_007294.3(BRCA1):c.5254_5255delinsAG;(p.A1752R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.

The Journal Of Biological Chemistry
Fernandes, Vanessa C VC; Golubeva, Volha A VA; Di Pietro, Giuliano G; Shields, Cara C; Amankwah, Kwabena K; Nepomuceno, Thales C TC; de Gregoriis, Giuliana G; Abreu, Renata B V RBV; Harro, Carly C; Gomes, Thiago T TT; Silva, Ricceli F RF; Suarez-Kurtz, Guilherme G; Couch, Fergus J FJ; Iversen, Edwin S ES; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA
Publication Date: 2019-04-12

Variant appearance in text: BRCA1: A1752R
PubMed Link: 30765603
Variant Present in the following documents:
  • Main text
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