DMD c.5404C>T ;(p.Q1802*)

Variant ID: X-32366567-G-A

NM_004006.2(DMD):c.5404C>T;(p.Q1802*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Plos One
Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2020

Variant appearance in text: DMD: 5404C>T; Gln1802*
PubMed Link: 32813700
Variant Present in the following documents:
  • Main text
  • pone.0237803.pdf
View BVdb publication page



[A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Niu, Huan-Hong HH; Tao, Dong-Ying DY; Cheng, Sheng-Quan SQ
Publication Date: 2020-06

Variant appearance in text: DMD: 5404C>T; Gln1802Ter
PubMed Link: 32571459
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Human Mutation
Flanigan, Kevin M KM; Dunn, Diane M DM; von Niederhausern, Andrew A; Soltanzadeh, Payam P; Howard, Michael T MT; Sampson, Jacinda B JB; Swoboda, Kathryn J KJ; Bromberg, Mark B MB; Mendell, Jerry R JR; Taylor, Laura E LE; Anderson, Christine B CB; Pestronk, Alan A; Florence, Julaine M JM; Connolly, Anne M AM; Mathews, Katherine D KD; Wong, Brenda B; Finkel, Richard S RS; Bonnemann, Carsten G CG; Day, John W JW; McDonald, Craig C; , ; Weiss, Robert B RB
Publication Date: 2011-03

Variant appearance in text: DMD: 5404C>T
PubMed Link: 21972111
Variant Present in the following documents:
  • Main text
View BVdb publication page