DMD c.2945T>A ;(p.L982*)

Variant ID: X-32490285-A-T

NM_004006.2(DMD):c.2945T>A;(p.L982*)

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:

MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.

Molecular Genetics & Genomic Medicine
Guevara-Fujita, María Luisa ML; Huaman-Dianderas, Francia F; Obispo, Daisy D; Sánchez, Rodrigo R; Barrenechea, Victor V; Rojas-Málaga, Diana D; Estrada-Cuzcano, Alejandro A; Trubnykova, Milana M; Cornejo-Olivas, Mario M; Marca, Victoria V; Gallardo, Bertha B; Dueñas-Roque, Milagros M; Protzel, Ana A; Castañeda, Carlos C; Abarca, Hugo H; Celis, Luis L; La Serna-Infantes, Jorge J; Fujita, Ricardo R
Publication Date: 2021-09

Variant appearance in text: DMD: 2945T>A; Leu982*
PubMed Link: 34327855
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1759.pdf
View BVdb publication page


MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.

Molecular Genetics & Genomic Medicine
Guevara-Fujita, María Luisa ML; Huaman-Dianderas, Francia F; Obispo, Daisy D; Sánchez, Rodrigo R; Barrenechea, Victor V; Rojas-Málaga, Diana D; Estrada-Cuzcano, Alejandro A; Trubnykova, Milana M; Cornejo-Olivas, Mario M; Marca, Victoria V; Gallardo, Bertha B; Dueñas-Roque, Milagros M; Protzel, Ana A; Castañeda, Carlos C; Abarca, Hugo H; Celis, Luis L; La Serna-Infantes, Jorge J; Fujita, Ricardo R
Publication Date: 2021-09

Variant appearance in text: DMD: 2945T>A; Leu982*
PubMed Link: 34327855
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1759.pdf
View BVdb publication page