DMD c.1615C>T ;(p.R539*)

Variant ID: X-32591951-G-A

NM_004006.2(DMD):c.1615C>T;(p.R539*)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: DMD: 1615C>T; Arg539Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: R539X
PubMed Link: 35994666
Variant Present in the following documents:
  • pnas.2122004119.sapp.pdf
View BVdb publication page



Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications
Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R
Publication Date: 2021-06-17

Variant appearance in text: DMD: 1615C>T
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page



The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: DMD: 1615C>T; R539*; rs398123865
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: DMD: 1615C>T; R539*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.

Plos One
Kumar, Shalini H SH; Athimoolam, Kalpana K; Suraj, Manikandan M; Das Christu Das, Mary Shoba MS; Muralidharan, Aparna A; Jeyam, Divya D; Ashokan, Jaicy J; Karthikeyan, Priya P; Krishna, Ragav R; Khanna-Gupta, Arati A; Bremadesam Raman, Lakshmi L
Publication Date: 2020

Variant appearance in text: DMD: 1615C>T; Arg539Ter
PubMed Link: 32559196
Variant Present in the following documents:
  • Main text
  • pone.0232654.pdf
View BVdb publication page



Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V
Publication Date: 2020-09

Variant appearance in text: DMD: 1615C>T; R539*
PubMed Link: 32528171
Variant Present in the following documents:
  • 41436_2020_840_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: DMD: 1615C>T
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.

Bmc Medical Genetics
Zhang, Jingjing J; Ma, Dingyuan D; Liu, Gang G; Wang, Yuguo Y; Liu, An A; Li, Li L; Luo, Chunyu C; Hu, Ping P; Xu, Zhengfeng Z
Publication Date: 2019-11-14

Variant appearance in text: DMD: Arg539*
PubMed Link: 31727011
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_912.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: DMD: 1615C>T; Arg539Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Validation of a Muscle-Specific Tissue Image Analysis Tool for Quantitative Assessment of Dystrophin Staining in Frozen Muscle Biopsies.

Archives Of Pathology & Laboratory Medicine
Aeffner, Famke F; Faelan, Crystal C; Moore, Steven A SA; Moody, Alexander A; Black, Joshua C JC; Charleston, Jay S JS; Frank, Diane E DE; Dworzak, Johannes J; Piper, J Kris JK; Ranjitkar, Manish M; Wilson, Kristin K; Kanaly, Suzanne S; Rudmann, Daniel G DG; Lange, Holger H; Young, G David GD; Milici, Anthony J AJ
Publication Date: 2019-02

Variant appearance in text: DMD: 1615C>T; R539*
PubMed Link: 30168727
Variant Present in the following documents:
  • Main text
View BVdb publication page



A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

Journal Of Clinical Laboratory Analysis
Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J
Publication Date: 2018-09

Variant appearance in text: DMD: 1615C>T; Arg539X
PubMed Link: 29604111
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: DMD: 1615C>T; Arg539Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: DMD: 1615C>T; R539*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: DMD: 1615C>T; R539*
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: DMD: 1615C>T; R539*
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.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: R539X
PubMed Link: 24349052
Variant Present in the following documents:
  • Main text
  • pone.0081302.pdf
View BVdb publication page



The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.

Plos One
Bovolenta, Matteo M; Erriquez, Daniela D; Valli, Emanuele E; Brioschi, Simona S; Scotton, Chiara C; Neri, Marcella M; Falzarano, Maria Sofia MS; Gherardi, Samuele S; Fabris, Marina M; Rimessi, Paola P; Gualandi, Francesca F; Perini, Giovanni G; Ferlini, Alessandra A
Publication Date: 2012

Variant appearance in text: DMD: 1615C>T
PubMed Link: 23028937
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.

Bmc Medical Genetics
Brioschi, Simona S; Gualandi, Francesca F; Scotton, Chiara C; Armaroli, Annarita A; Bovolenta, Matteo M; Falzarano, Maria S MS; Sabatelli, Patrizia P; Selvatici, Rita R; D'Amico, Adele A; Pane, Marika M; Ricci, Giulia G; Siciliano, Gabriele G; Tedeschi, Silvana S; Pini, Antonella A; Vercelli, Liliana L; De Grandis, Domenico D; Mercuri, Eugenio E; Bertini, Enrico E; Merlini, Luciano L; Mongini, Tiziana T; Ferlini, Alessandra A
Publication Date: 2012-08-16

Variant appearance in text: DMD: 1615C>T; R539X
PubMed Link: 22894145
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-73.pdf
View BVdb publication page



Clinical and genetic characterization of manifesting carriers of DMD mutations.

Neuromuscular Disorders : Nmd
Soltanzadeh, Payam P; Friez, Michael J MJ; Dunn, Diane D; von Niederhausern, Andrew A; Gurvich, Olga L OL; Swoboda, Kathryn J KJ; Sampson, Jacinda B JB; Pestronk, Alan A; Connolly, Anne M AM; Florence, Julaine M JM; Finkel, Richard S RS; Bönnemann, Carsten G CG; Medne, Livija L; Mendell, Jerry R JR; Mathews, Katherine D KD; Wong, Brenda L BL; Sussman, Michael D MD; Zonana, Jonathan J; Kovak, Karen K; Gospe, Sidney M SM; Gappmaier, Eduard E; Taylor, Laura E LE; Howard, Michael T MT; Weiss, Robert B RB; Flanigan, Kevin M KM
Publication Date: 2010-08

Variant appearance in text: DMD: 1615C>T; Arg539X
PubMed Link: 20630757
Variant Present in the following documents:
  • Main text
View BVdb publication page