DMD c.5002G>T ;(p.E1668*)

Variant ID: X-32383160-C-A

NM_004006.2(DMD):c.5002G>T;(p.E1668*)

This variant was identified in 2 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: 5002G>T; Glu1668*
PubMed Link: 32813700
Variant Present in the following documents:
  • Main text
  • pone.0237803.pdf
View BVdb publication page



Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.

Frontiers In Genetics
Wang, Liang L; Xu, Min M; Li, Huan H; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C; Zhu, Yuling Y
Publication Date: 2019

Variant appearance in text: DMD: 5002G>T; Glu1668Ter
PubMed Link: 30833962
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page