DMD c.4757G>A ;(p.W1586*)

Variant ID: X-32398715-C-T

NM_004006.2(DMD):c.4757G>A;(p.W1586*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Genes
Alcántara-Ortigoza, Miguel Angel MA; Reyna-Fabián, Miriam Erandi ME; González-Del Angel, Ariadna A; Estandia-Ortega, Bernardette B; Bermúdez-López, Cesárea C; Cruz-Miranda, Gabriela Marisol GM; Ruíz-García, Matilde M
Publication Date: 2019-10-29

Variant appearance in text: DMD: 4757G>A; Trp1586*
PubMed Link: 31671740
Variant Present in the following documents:
  • Main text
  • genes-10-00856.pdf
View BVdb publication page