GAA c.2172C>A ;(p.A724=)

Variant ID: 17-78087148-C-A

NM_000152.3(GAA):c.2172C>A;(p.A724=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GAA: 2172C>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomics of an endemic cystic fibrosis Burkholderia multivorans strain reveals low within-patient evolution but high between-patient diversity.

Plos Pathogens
Lood, Cédric C; Peeters, Charlotte C; Lamy-Besnier, Quentin Q; Wagemans, Jeroen J; De Vos, Daniel D; Proesmans, Marijke M; Pirnay, Jean-Paul JP; Echahidi, Fedoua F; Piérard, Denis D; Thimmesch, Matthieu M; Boeras, Anca A; Lagrou, Katrien K; De Canck, Evelien E; De Wachter, Elke E; van Noort, Vera V; Lavigne, Rob R; Vandamme, Peter P
Publication Date: 2021-03

Variant appearance in text: GAA: 2172C>A
PubMed Link: 33720991
Variant Present in the following documents:
  • ppat.1009418.s005.xlsx, sheet 9
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: Ala724Ala
PubMed Link: 31803247
Variant Present in the following documents:
  • DataSheet_2.pdf
View BVdb publication page