BRCA1 c.5095_5096delinsAA ;(p.R1699K)

Variant ID: 17-41215947-CG-TT

NM_007294.3(BRCA1):c.5095_5096delinsAA;(p.R1699K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

Plos One
Carvalho, Renato S RS; Abreu, Renata B V RB; Velkova, Aneliya A; Marsillac, Sylvia S; Rodarte, Renato S RS; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Monteiro, Alvaro N A AN; Carvalho, Marcelo A MA
Publication Date: 2014

Variant appearance in text: BRCA1: Arg1699Lys
PubMed Link: 24845084
Variant Present in the following documents:
  • Main text
  • pone.0097766.pdf
View BVdb publication page