DMD c.5444A>G ;(p.D1815G)

Variant ID: X-32366527-T-C

NM_004006.2(DMD):c.5444A>G;(p.D1815G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 5444A>G
PubMed Link: 33376799
Variant Present in the following documents:
  • NG2020014407.pdf
View BVdb publication page



DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

Plos One
Juan-Mateu, Jonas J; Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Baena, Manel M; Verdura, Edgard E; Nascimento, Andres A; Ortez, Carlos C; Baiget, Montserrat M; Gallano, Pia P
Publication Date: 2015

Variant appearance in text: DMD: 5444A>G; Asp1815Gly
PubMed Link: 26284620
Variant Present in the following documents:
  • Main text
  • pone.0135189.pdf
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: 5444A>G
PubMed Link: 23536893
Variant Present in the following documents:
  • Main text
View BVdb publication page