DMD c.3430C>T ;(p.Q1144*)

Variant ID: X-32481558-G-A

NM_004006.2(DMD):c.3430C>T;(p.Q1144*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.

Human Genetics
Okubo, Mariko M; Noguchi, Satoru S; Hayashi, Shinichiro S; Nakamura, Harumasa H; Komaki, Hirofumi H; Matsuo, Masafumi M; Nishino, Ichizo I
Publication Date: 2020-02

Variant appearance in text: DMD: 3430C>T; Gln1144*
PubMed Link: 31919629
Variant Present in the following documents:
  • Main text
  • 439_2019_Article_2107.pdf
View BVdb publication page



In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

Nucleic Acids Research
Sahashi, Kentaro K; Masuda, Akio A; Matsuura, Tohru T; Shinmi, Jun J; Zhang, Zhujun Z; Takeshima, Yasuhiro Y; Matsuo, Masafumi M; Sobue, Gen G; Ohno, Kinji K
Publication Date: 2007

Variant appearance in text: DMD: Q1144X
PubMed Link: 17726045
Variant Present in the following documents:
  • nar_gkm647_2.pdf
View BVdb publication page