DMD c.7542+13A>G

Variant ID: X-31792064-T-C

NM_004006.2(DMD):c.7542+13A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.

Diagnostics (Basel, Switzerland)
De Palma, Fatima Domenica Elisa FDE; Nunziato, Marcella M; D'Argenio, Valeria V; Savarese, Maria M; Esposito, Gabriella G; Salvatore, Francesco F
Publication Date: 2021-10-15

Variant appearance in text: DMD: 7542+13A>G; rs72466585
PubMed Link: 34679607
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01910.pdf
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: 7542+13A>G
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Bujakowska, Kinga M KM; Fernandez-Godino, Rosario R; Place, Emily E; Consugar, Mark M; Navarro-Gomez, Daniel D; White, Joseph J; Bedoukian, Emma C EC; Zhu, Xiaosong X; Xie, Hongbo M HM; Gai, Xiaowu X; Leroy, Bart P BP; Pierce, Eric A EA
Publication Date: 2017-06

Variant appearance in text: rs72466585
PubMed Link: 27735924
Variant Present in the following documents:
  • NIHMS819557-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
View BVdb publication page