GAA c.1830C>G ;(p.A610=)

Variant ID: 17-78086452-C-G

NM_000152.3(GAA):c.1830C>G;(p.A610=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Orphanet Journal Of Rare Diseases
Johnson, Katherine K; Töpf, Ana A; Bertoli, Marta M; Phillips, Lauren L; Claeys, Kristl G KG; Stojanovic, Vidosava Rakocevic VR; Perić, Stojan S; Hahn, Andreas A; Maddison, Paul P; Akay, Ela E; Bastian, Alexandra E AE; Łusakowska, Anna A; Kostera-Pruszczyk, Anna A; Lek, Monkol M; Xu, Liwen L; MacArthur, Daniel G DG; Straub, Volker V
Publication Date: 2017-11-17

Variant appearance in text: rs61736896
PubMed Link: 29149851
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular genetics of late onset glycogen storage disease II in Italy.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Pittis, M G MG; Filocamo, M M
Publication Date: 2007-07

Variant appearance in text: GAA: A610A
PubMed Link: 17915575
Variant Present in the following documents:
  • Main text
View BVdb publication page