DMD c.6292C>T ;(p.R2098*)

Variant ID: X-32235179-G-A

NM_004006.2(DMD):c.6292C>T;(p.R2098*)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China.

Bmc Medical Genomics
Tang, Feng F; Xiao, Yuanyuan Y; Zhou, Cong C; Zhang, Haixia H; Wang, Jing J; Zeng, Yang Y
Publication Date: 2023-05-30

Variant appearance in text: DMD: 6292C>T; R2098*
PubMed Link: 37254189
Variant Present in the following documents:
  • Main text
  • 12920_2023_Article_1556.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: 6292C>T
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page



Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2021-06-02

Variant appearance in text: DMD: 6292C>T; Arg2098*
PubMed Link: 34078427
Variant Present in the following documents:
  • 13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page



Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.

Neurology. Genetics
Selvatici, Rita R; Rossi, Rachele R; Fortunato, Fernanda F; Trabanelli, Cecilia C; Sifi, Yamina Y; Margutti, Alice A; Neri, Marcella M; Gualandi, Francesca F; Szabò, Lena L; Fekete, Balint B; Angelova, Lyudmilla L; Litvinenko, Ivan I; Ivanov, Ivan I; Vildan, Yurtsever Y; Iuhas, Oana Alexandra OA; Vintan, Mihaela M; Burloiu, Carmen C; Lacramioara, Butnariu B; Visa, Gabriela G; Epure, Diana D; Rusu, Cristina C; Vasile, Daniela D; Sandu, Magdalena M; Vlodavets, Dmitry D; Mager, Monica M; Kyriakides, Theodore T; Delin, Sanja S; Lehman, Ivan I; Fureš, Jadranka Sekelj JS; Bojinova, Veneta V; Militaru, Mariela M; Guergueltcheva, Velina V; Burnyte, Birute B; Molnar, Maria Judith MJ; Butoianu, Niculina N; Bensemmane, Selma Dounia SD; Makri-Mokrane, Samira S; Herczegfalvi, Agnes A; Panzaru, Monica M; Emandi, Adela Chirita AC; Lusakowska, Anna A; Potulska-Chromik, Anna A; Kostera-Pruszczyk, Anna A; Shatillo, Andriy A; Khelladi, Djawed Bouchenak DB; Dendane, Oussama O; Fang, Mingyan M; Lu, Zhiyuan Z; Ferlini, Alessandra A
Publication Date: 2021-02

Variant appearance in text: DMD: 6292C>T; Arg2098*
PubMed Link: 33376799
Variant Present in the following documents:
  • NG2020014407.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: 6292C>T; Arg2098Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
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: 6292C>T
PubMed Link: 30833962
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
View BVdb publication page



Clinical and genetic characteristics of female dystrophinopathy carriers.

Molecular Medicine Reports
Zhong, Jingzi J; Xie, Yanshu Y; Bhandari, Vidata V; Chen, Gang G; Dang, Yiwu Y; Liao, Haixia H; Zhang, Jiapeng J; Lan, Dan D
Publication Date: 2019-04

Variant appearance in text: DMD: 6292C>T; Arg2098Ter
PubMed Link: 30816495
Variant Present in the following documents:
  • Main text
  • mmr-19-04-3035.pdf
View BVdb publication page



Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2018-07-04

Variant appearance in text: DMD: 6292C>T; Arg2098*
PubMed Link: 29973226
Variant Present in the following documents:
  • 13023_2018_853_MOESM1_ESM.pdf
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: 6292C>T; Arg2098X
PubMed Link: 29604111
Variant Present in the following documents:
  • Main text
View BVdb publication page



The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Human Genetics
Monies, Dorota D; Abouelhoda, Mohamed M; AlSayed, Moeenaldeen M; Alhassnan, Zuhair Z; Alotaibi, Maha M; Kayyali, Husam H; Al-Owain, Mohammed M; Shah, Ayaz A; Rahbeeni, Zuhair Z; Al-Muhaizea, Mohammad A MA; Alzaidan, Hamad I HI; Cupler, Edward E; Bohlega, Saeed S; Faqeih, Eissa E; Faden, Maha M; Alyounes, Banan B; Jaroudi, Dyala D; Goljan, Ewa E; Elbardisy, Hadeel H; Akilan, Asma A; Albar, Renad R; Aldhalaan, Hesham H; Gulab, Shamshad S; Chedrawi, Aziza A; Al Saud, Bandar K BK; Kurdi, Wesam W; Makhseed, Nawal N; Alqasim, Tahani T; El Khashab, Heba Y HY; Al-Mousa, Hamoud H; Alhashem, Amal A; Kanaan, Imaduddin I; Algoufi, Talal T; Alsaleem, Khalid K; Basha, Talal A TA; Al-Murshedi, Fathiya F; Khan, Sameena S; Al-Kindy, Adila A; Alnemer, Maha M; Al-Hajjar, Sami S; Alyamani, Suad S; Aldhekri, Hasan H; Al-Mehaidib, Ali A; Arnaout, Rand R; Dabbagh, Omar O; Shagrani, Mohammad M; Broering, Dieter D; Tulbah, Maha M; Alqassmi, Amal A; Almugbel, Maisoon M; AlQuaiz, Mohammed M; Alsaman, Abdulaziz A; Al-Thihli, Khalid K; Sulaiman, Raashda A RA; Al-Dekhail, Wajeeh W; Alsaegh, Abeer A; Bashiri, Fahad A FA; Qari, Alya A; Alhomadi, Suzan S; Alkuraya, Hisham H; Alsebayel, Mohammed M; Hamad, Muddathir H MH; Szonyi, Laszlo L; Abaalkhail, Faisal F; Al-Mayouf, Sulaiman M SM; Almojalli, Hamad H; Alqadi, Khalid S KS; Elsiesy, Hussien H; Shuaib, Taghreed M TM; Seidahmed, Mohammed Zain MZ; Abosoudah, Ibraheem I; Akleh, Hana H; AlGhonaium, Abdulaziz A; Alkharfy, Turki M TM; Al Mutairi, Fuad F; Eyaid, Wafa W; Alshanbary, Abdullah A; Sheikh, Farrukh R FR; Alsohaibani, Fahad I FI; Alsonbul, Abdullah A; Al Tala, Saeed S; Balkhy, Soher S; Bassiouni, Randa R; Alenizi, Ahmed S AS; Hussein, Maged H MH; Hassan, Saeed S; Khalil, Mohamed M; Tabarki, Brahim B; Alshahwan, Saad S; Oshi, Amira A; Sabr, Yasser Y; Alsaadoun, Saad S; Salih, Mustafa A MA; Mohamed, Sarar S; Sultana, Habiba H; Tamim, Abdullah A; El-Haj, Moayad M; Alshahrani, Saif S; Bubshait, Dalal K DK; Alfadhel, Majid M; Faquih, Tariq T; El-Kalioby, Mohamed M; Subhani, Shazia S; Shah, Zeeshan Z; Moghrabi, Nabil N; Meyer, Brian F BF; Alkuraya, Fowzan S FS
Publication Date: 2017-08

Variant appearance in text: rs128626250
PubMed Link: 28600779
Variant Present in the following documents:
  • 439_2017_1821_MOESM1_ESM.xlsx, sheet 1
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: 6292C>T; Arg2098Ter
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: 6292C>T; R2098*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

Orphanet Journal Of Rare Diseases
Li, Xihua X; Zhao, Lei L; Zhou, Shuizhen S; Hu, Chaoping C; Shi, Yiyun Y; Shi, Wei W; Li, Hui H; Liu, Fang F; Wu, Bingbing B; Wang, Yi Y
Publication Date: 2015-01-23

Variant appearance in text: DMD: 6292C>T; Arg2098X
PubMed Link: 25612904
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_220.pdf
View BVdb publication page



New trends in aminoglycosides use.

Medchemcomm
Fosso, Marina Y MY; Li, Yijia Y; Garneau-Tsodikova, Sylvie S
Publication Date: 2014-08-01

Variant appearance in text: DMD: R2098X
PubMed Link: 25071928
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One
Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P
Publication Date: 2013

Variant appearance in text: DMD: 6292C>T; Arg2098X
PubMed Link: 23536893
Variant Present in the following documents:
  • Main text
  • pone.0059916.pdf
View BVdb publication page