GAA c.1753_1754+57del

Variant ID: 17-78085898-CAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTT-C

NM_000152.3(GAA):c.1753_1754+57del

This variant was identified in 2 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: 1753_2799del
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: 1753_2799del
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
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: 1753_2799del
PubMed Link: 30023291
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page