EGR1 c.1458del ;(p.H487Tfs*45)

Variant ID: 5-137803596-TG-T

NM_001964.2(EGR1):c.1458del;(p.H487Tfs*45)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.

Orphanet Journal Of Rare Diseases
Benusiglio, Patrick R PR; Giraud, Sophie S; Deveaux, Sophie S; Méjean, Arnaud A; Correas, Jean-Michel JM; Joly, Dominique D; Timsit, Marc-Olivier MO; Ferlicot, Sophie S; Verkarre, Virginie V; Abadie, Caroline C; Chauveau, Dominique D; Leroux, Dominique D; Avril, Marie-Françoise MF; Cordier, Jean-François JF; Richard, Stéphane S; ,
Publication Date: 2014-10-29

Variant appearance in text: 225: 1458del
PubMed Link: 25519458
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_163.pdf
View BVdb publication page