GAA c.1552-3C>G

Variant ID: 17-78084737-C-G

NM_000152.3(GAA):c.1552-3C>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

Frontiers In Genetics
Ramensky, Vasily E VE; Ershova, Alexandra I AI; Zaicenoka, Marija M; Kiseleva, Anna V AV; Zharikova, Anastasia A AA; Vyatkin, Yuri V YV; Sotnikova, Evgeniia A EA; Efimova, Irina A IA; Divashuk, Mikhail G MG; Kurilova, Olga V OV; Skirko, Olga P OP; Muromtseva, Galina A GA; Belova, Olga A OA; Rachkova, Svetlana A SA; Pokrovskaya, Maria S MS; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2021

Variant appearance in text: GAA: 1552-3C>G; rs375470378
PubMed Link: 34691145
Variant Present in the following documents:
  • Main text
  • Data_Sheet_2.xlsx, sheet 3
  • fgene-12-709419.pdf
  • Data_Sheet_2.xlsx, sheet 4
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: GAA: 1552-3C>G; rs375470378
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 3
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page