GAA c.1549_1551del ;(p.I517del)

Variant ID: 17-78084637-GATT-G

NM_000152.3(GAA):c.1549_1551del;(p.I517del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Newborn Screening for Pompe Disease.

International Journal Of Neonatal Screening
Sawada, Takaaki T; Kido, Jun J; Nakamura, Kimitoshi K
Publication Date: 2020-06

Variant appearance in text: GAA: I517del
PubMed Link: 33073027
Variant Present in the following documents:
  • Main text
  • IJNS-06-00031.pdf
View BVdb publication page



GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11

Variant appearance in text: GAA: Ile517del
PubMed Link: 31342611
Variant Present in the following documents:
  • HUMU-40-2146-s001.pdf
View BVdb publication page



Familial adult-onset Pompe disease associated with unusual clinical and histological features.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Maggi, Lorenzo L; Salerno, Franco F; Bragato, Cinzia C; Saredi, Simona S; Blasevich, Flavia F; Maccagnano, Elio E; Pasanisi, Barbara B; Danesino, Cesare C; Mora, Marina M; Morandi, Lucia L
Publication Date: 2013-10

Variant appearance in text: GAA: Ile517del
PubMed Link: 24399864
Variant Present in the following documents:
  • Main text
  • 1128-2460-32-85.pdf
View BVdb publication page