DMD c.5893C>T ;(p.Q1965*)

Variant ID: X-32360246-G-A

NM_004006.2(DMD):c.5893C>T;(p.Q1965*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 5893C>T; Gln1965X
PubMed Link: 23536893
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

Orphanet Journal Of Rare Diseases
Juan-Mateu, Jonàs J; Rodríguez, Maria José MJ; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; González-Quereda, Lidia L; Rivas, Eloy E; Paradas, Carmen C; Madruga, Marcos M; Sánchez-Ayaso, Pedro P; Jou, Cristina C; González-Mera, Laura L; Munell, Francina F; Roig-Quilis, Manuel M; Rabasa, Maria M; Hernández-Lain, Aurelio A; Díaz-Manera, Jorge J; Gallardo, Eduard E; Pascual, Jordi J; Verdura, Edgard E; Colomer, Jaume J; Baiget, Montserrat M; Olivé, Montse M; Gallano, Pia P
Publication Date: 2012-10-23

Variant appearance in text: DMD: 5893C>T; Gln1965X
PubMed Link: 23092449
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-82.pdf
View BVdb publication page



Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.

The Journal Of Molecular Diagnostics : Jmd
Kalman, Lisa L; Leonard, Jay J; Gerry, Norman N; Tarleton, Jack J; Bridges, Christina C; Gastier-Foster, Julie M JM; Pyatt, Robert E RE; Stonerock, Eileen E; Johnson, Monique A MA; Richards, C Sue CS; Schrijver, Iris I; Ma, Tianhui T; Miller, Vanessa Rangel VR; Adadevoh, Yetsa Y; Furlong, Pat P; Beiswanger, Christine C; Toji, Lorraine L
Publication Date: 2011-03

Variant appearance in text: DMD: 5893C>T; Q1965X
PubMed Link: 21354051
Variant Present in the following documents:
  • Main text
View BVdb publication page