DMD c.3086G>A ;(p.W1029*)

Variant ID: X-32486691-C-T

NM_004006.2(DMD):c.3086G>A;(p.W1029*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: DMD: W1029*
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.

Plos One
Taylor, Peter J PJ; Betts, Grant A GA; Maroulis, Sarah S; Gilissen, Christian C; Pedersen, Robyn L RL; Mowat, David R DR; Johnston, Heather M HM; Buckley, Michael F MF
Publication Date: 2010-01-20

Variant appearance in text: DMD: 3086G>A; Trp1029X
PubMed Link: 20098710
Variant Present in the following documents:
  • Main text
  • pone.0008803.pdf
View BVdb publication page