DMD c.5086del ;(p.I1696Ffs*25)

Variant ID: X-32382767-AT-A

NM_004006.2(DMD):c.5086del;(p.I1696Ffs*25)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.

The Application Of Clinical Genetics
Triana-Fonseca, Paula P; Parada-Márquez, Juan Fernando JF; Silva-Aldana, Claudia T CT; Zambrano-Arenas, Daniela D; Arias-Gomez, Laura Lucia LL; Morales-Fonseca, Natalia N; Medina-Méndez, Esteban E; Restrepo, Carlos M CM; Silgado-Guzmán, Daniel Felipe DF; Fonseca-Mendoza, Dora Janeth DJ
Publication Date: 2021

Variant appearance in text: DMD: 5086del; Ile1696Phefs*25
PubMed Link: 34629887
Variant Present in the following documents:
  • Main text
  • tacg-14-399.pdf
View BVdb publication page