DMD c.580C>T ;(p.Q194*)

Variant ID: X-32827679-G-A

NM_004006.2(DMD):c.580C>T;(p.Q194*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bidou, Laure L; Bugaud, Olivier O; Merer, Goulven G; Coupet, Matthieu M; Hatin, Isabelle I; Chirkin, Egor E; Karri, Sabrina S; Demais, Stéphane S; François, Pauline P; Cintrat, Jean-Christophe JC; Namy, Olivier O
Publication Date: 2022-08-30

Variant appearance in text: DMD: Q194X
PubMed Link: 35994666
Variant Present in the following documents:
  • pnas.2122004119.sapp.pdf
View BVdb publication page



Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.

Frontiers In Pharmacology
Wang, Dong D; Gao, Min M; Zhang, Kaihui K; Jin, Ruifeng R; Lv, Yuqiang Y; Liu, Yong Y; Ma, Jian J; Wan, Ya Y; Gai, Zhongtao Z; Liu, Yi Y
Publication Date: 2019

Variant appearance in text: DMD: 580C>T; Gln194Ter
PubMed Link: 31404137
Variant Present in the following documents:
  • Main text
  • fphar-10-00814.pdf
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Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.

Circulation. Genomic And Precision Medicine
Yamamoto, Tetsushi T; Awano, Hiroyuki H; Zhang, Zhujun Z; Sakuma, Mio M; Kitaaki, Shoko S; Matsumoto, Masaaki M; Nagai, Masashi M; Sato, Itsuko I; Imanishi, Takamitsu T; Hayashi, Nobuhide N; Matsuo, Masafumi M; Iijima, Kazumoto K; Saegusa, Jun J
Publication Date: 2018-01

Variant appearance in text: DMD: 580C>T
PubMed Link: 29874176
Variant Present in the following documents:
  • hcg-11-e001782-s001.pdf
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: DMD: 580C>T; Q194*
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: Q194X
PubMed Link: 24349052
Variant Present in the following documents:
  • Main text
  • pone.0081302.pdf
View BVdb publication page



Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).

European Journal Of Human Genetics : Ejhg
Moat, Stuart J SJ; Bradley, Donald M DM; Salmon, Rachel R; Clarke, Angus A; Hartley, Louise L
Publication Date: 2013-10

Variant appearance in text: DMD: 580C>T
PubMed Link: 23340516
Variant Present in the following documents:
  • Main text
View BVdb publication page