EGR1 c.1285del ;(p.S429Vfs*103)

Variant ID: 5-137803419-CA-C

NM_001964.2(EGR1):c.1285del;(p.S429Vfs*103)

This variant was identified in 2 publications

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: 1285del
PubMed Link: 25519458
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_163.pdf
View BVdb publication page



Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Bmc Medical Genetics
Stekrova, Jitka J; Sulova, Martina M; Kebrdlova, Vera V; Zidkova, Katerina K; Kotlas, Jaroslav J; Ilencikova, Denisa D; Vesela, Kamila K; Kohoutova, Milada M
Publication Date: 2007-04-05

Variant appearance in text: 225: 1284delA
PubMed Link: 17411426
Variant Present in the following documents:
  • 1471-2350-8-16.pdf
View BVdb publication page