GAA c.2155G>A ;(p.A719T)

Variant ID: 17-78087131-G-A

NM_000152.3(GAA):c.2155G>A;(p.A719T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: GAA: 2155G>A; Ala719Thr
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: GAA: A719T
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



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: GAA: 2155G>A; Ala719Thr
PubMed Link: 29149851
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_722.pdf
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: GAA: A719T
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page