DMD c.3500C>G ;(p.S1167*)

Variant ID: X-32472882-G-C

NM_004006.2(DMD):c.3500C>G;(p.S1167*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

Nature Communications
George, Julie J; Walter, Vonn V; Peifer, Martin M; Alexandrov, Ludmil B LB; Seidel, Danila D; Leenders, Frauke F; Maas, Lukas L; Müller, Christian C; Dahmen, Ilona I; Delhomme, Tiffany M TM; Ardin, Maude M; Leblay, Noemie N; Byrnes, Graham G; Sun, Ruping R; De Reynies, Aurélien A; McLeer-Florin, Anne A; Bosco, Graziella G; Malchers, Florian F; Menon, Roopika R; Altmüller, Janine J; Becker, Christian C; Nürnberg, Peter P; Achter, Viktor V; Lang, Ulrich U; Schneider, Peter M PM; Bogus, Magdalena M; Soloway, Matthew G MG; Wilkerson, Matthew D MD; Cun, Yupeng Y; McKay, James D JD; Moro-Sibilot, Denis D; Brambilla, Christian G CG; Lantuejoul, Sylvie S; Lemaitre, Nicolas N; Soltermann, Alex A; Weder, Walter W; Tischler, Verena V; Brustugun, Odd Terje OT; Lund-Iversen, Marius M; Helland, Åslaug Å; Solberg, Steinar S; Ansén, Sascha S; Wright, Gavin G; Solomon, Benjamin B; Roz, Luca L; Pastorino, Ugo U; Petersen, Iver I; Clement, Joachim H JH; Sänger, Jörg J; Wolf, Jürgen J; Vingron, Martin M; Zander, Thomas T; Perner, Sven S; Travis, William D WD; Haas, Stefan A SA; Olivier, Magali M; Foll, Matthieu M; Büttner, Reinhard R; Hayes, David Neil DN; Brambilla, Elisabeth E; Fernandez-Cuesta, Lynnette L; Thomas, Roman K RK
Publication Date: 2018-03-13

Variant appearance in text: DMD: 3500C>G; S1167*
PubMed Link: 29535388
Variant Present in the following documents:
  • 41467_2018_3099_MOESM8_ESM.xlsx, sheet 1
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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: 3500C>G
PubMed Link: 21972111
Variant Present in the following documents:
  • Main text
View BVdb publication page