GAA c.1657C>T ;(p.Q553*)

Variant ID: 17-78085802-C-T

NM_000152.3(GAA):c.1657C>T;(p.Q553*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease.

Frontiers In Neurology
Alonso-Jiménez, Alicia A; Nuñez-Peralta, Claudia C; Montesinos, Paula P; Alonso-Pérez, Jorge J; García, Carme C; Montiel, Elena E; Belmonte, Izaskun I; Pedrosa, Irene I; Segovia, Sonia S; Llauger, Jaume J; Díaz-Manera, Jordi J
Publication Date: 2021

Variant appearance in text: GAA: 1657C>T
PubMed Link: 34305788
Variant Present in the following documents:
  • Main text
  • fneur-12-675781.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: 1657C>T
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: 1657C>T
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
View BVdb publication page



Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

European Journal Of Human Genetics : Ejhg
Zhao, Sumin S; Xiang, Jiale J; Fan, Chunna C; Asan, ; Shang, Xuan X; Zhang, Xinhua X; Chen, Yan Y; Zhu, Baosheng B; Cai, Wangwei W; Chen, Shaoke S; Cai, Ren R; Guo, Xiaoling X; Zhang, Chonglin C; Zhou, Yuqiu Y; Huang, Shuodan S; Liu, Yanhui Y; Chen, Biyan B; Yan, Shanhuo S; Chen, Yajun Y; Ding, Hongmei H; Guo, Fengyu F; Wang, Yaoshen Y; Zhong, Wenwei W; Zhu, Yaping Y; Wang, Yaling Y; Chen, Chao C; Li, Yun Y; Huang, Hui H; Mao, Mao M; Yin, Ye Y; Wang, Jian J; Yang, Huanming H; Xu, Xiangmin X; Sun, Jun J; Peng, Zhiyu Z
Publication Date: 2019-02

Variant appearance in text: GAA: 1657C>T
PubMed Link: 30275481
Variant Present in the following documents:
  • 41431_2018_253_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

Molecular Genetics And Metabolism Reports
Al-Hassnan, Zuhair N ZN; Khalifa, Ola A OA; Bubshait, Dalal K DK; Tulbah, Sahar S; Alkorashy, Maarab M; Alzaidan, Hamad H; Alowain, Mohammed M; Rahbeeni, Zuhair Z; Al-Sayed, Moeen M
Publication Date: 2018-06

Variant appearance in text: GAA: 1657C>T
PubMed Link: 30023291
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.

Scientific Reports
Figueroa-Bonaparte, Sebastian S; Llauger, Jaume J; Segovia, Sonia S; Belmonte, Izaskun I; Pedrosa, Irene I; Montiel, Elena E; Montesinos, Paula P; Sánchez-González, Javier J; Alonso-Jiménez, Alicia A; Gallardo, Eduard E; Illa, Isabel I; , ; Díaz-Manera, Jordi J
Publication Date: 2018-07-18

Variant appearance in text: GAA: 1657C>T
PubMed Link: 30022036
Variant Present in the following documents:
  • Main text
View BVdb publication page



Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Erj Open Research
Pranke, Iwona I; Bidou, Laure L; Martin, Natacha N; Blanchet, Sandra S; Hatton, Aurélie A; Karri, Sabrina S; Cornu, David D; Costes, Bruno B; Chevalier, Benoit B; Tondelier, Danielle D; Girodon, Emmanuelle E; Coupet, Matthieu M; Edelman, Aleksander A; Fanen, Pascale P; Namy, Olivier O; Sermet-Gaudelus, Isabelle I; Hinzpeter, Alexandre A
Publication Date: 2018-01

Variant appearance in text: GAA: 1657C>T
PubMed Link: 29497617
Variant Present in the following documents:
  • 00080-2017_supp.pdf
View BVdb publication page



Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

Plos One
Figueroa-Bonaparte, Sebastián S; Segovia, Sonia S; Llauger, Jaume J; Belmonte, Izaskun I; Pedrosa, Irene I; Alejaldre, Aída A; Mayos, Mercè M; Suárez-Cuartín, Guillermo G; Gallardo, Eduard E; Illa, Isabel I; Díaz-Manera, Jordi J; ,
Publication Date: 2016

Variant appearance in text: GAA: 1657C>T
PubMed Link: 27711114
Variant Present in the following documents:
  • Main text
View BVdb publication page



Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Orphanet Journal Of Rare Diseases
Alfadhel, Majid M; Benmeakel, Mohammed M; Hossain, Mohammad Arif MA; Al Mutairi, Fuad F; Al Othaim, Ali A; Alfares, Ahmed A AA; Al Balwi, Mohammed M; Alzaben, Abdullah A; Eyaid, Wafaa W
Publication Date: 2016-09-15

Variant appearance in text: GAA: Gln553*
PubMed Link: 27629047
Variant Present in the following documents:
  • Main text
View BVdb publication page