GAA c.1610del ;(p.E537Gfs*41)

Variant ID: 17-78084798-GA-G

NM_000152.3(GAA):c.1610del;(p.E537Gfs*41)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GAA: 1610delA; Glu537fs
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
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: 1610del
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
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: 1610del
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
View BVdb publication page



A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report.

Frontiers In Genetics
Qiao, Fengchang F; Shao, Binbin B; Wang, Chen C; Wang, Yan Y; Zhou, Ran R; Liu, Gang G; Meng, Lulu L; Hu, Ping P; Xu, Zhengfeng Z
Publication Date: 2019

Variant appearance in text: GAA: 1610delA
PubMed Link: 31803247
Variant Present in the following documents:
  • DataSheet_2.pdf
View BVdb publication page