GAA c.2004C>A ;(p.Y668*)

Variant ID: 17-78086790-C-A

NM_000152.3(GAA):c.2004C>A;(p.Y668*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Publication Date: 2021-02

Variant appearance in text: GAA: 2004C>A
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
View BVdb publication page



Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Publication Date: 2021-02

Variant appearance in text: GAA: 2004C>A
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: GAA: Y668X
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
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: 2004C>A; Tyr668Ter
PubMed Link: 31342611
Variant Present in the following documents:
  • Main text
  • HUMU-40-2146.pdf
View BVdb publication page



Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

Jimd Reports
Hahn, Andreas A; Praetorius, Susanne S; Karabul, Nesrin N; Dießel, Johanna J; Schmidt, Dorle D; Motz, Reinald R; Haase, Claudia C; Baethmann, Martina M; Hennermann, Julia B JB; Smitka, Martin M; Santer, René R; Muschol, Nicole N; Meyer, Ann A; Marquardt, Thorsten T; Huemer, Martina M; Thiels, Charlotte C; Rohrbach, Marianne M; Seyfullah, Gökce G; Mengel, Eugen E
Publication Date: 2015

Variant appearance in text: GAA: 2004C>A
PubMed Link: 25626711
Variant Present in the following documents:
  • Main text
View BVdb publication page