DMD c.8680G>T ;(p.E2894*)

Variant ID: X-31496480-C-A

NM_004006.2(DMD):c.8680G>T;(p.E2894*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.

Plos One
Finkel, Richard S RS; Flanigan, Kevin M KM; Wong, Brenda B; Bönnemann, Carsten C; Sampson, Jacinda J; Sweeney, H Lee HL; Reha, Allen A; Northcutt, Valerie J VJ; Elfring, Gary G; Barth, Jay J; Peltz, Stuart W SW
Publication Date: 2013

Variant appearance in text: DMD: E2894X
PubMed Link: 24349052
Variant Present in the following documents:
  • Main text
  • pone.0081302.pdf
View BVdb publication page