TG c.1370_1371delinsAG ;(p.A457E)

Variant ID: 8-133898987-CC-AG

NM_003235.4(TG):c.1370_1371delinsAG;(p.A457E)

This variant was identified in 2 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: TG: A457E
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

Neuromuscular Disorders : Nmd
Inal-Gültekin, Güldal G; Toptaş-Hekimoğlu, Bahar B; Görmez, Zeliha Z; Gelişin, Özlem Ö; Durmuş, Hacer H; Ergüner, Bekir B; Demirci, Hüseyin H; Sağıroğlu, Mahmut Ş MŞ; Parman, Yeşim Y; Deymeer, Feza F; Yılmaz-Aydoğan, Hülya H; Pençe, Sadrettin S; Bekircan-Kurt, Can Ebru CE; Tan, Ersin E; Erdem-Özdamar, Sevim S; Üstek, Duran D; Giger, Urs U; Öztürk, Oğuz O; Serdaroğlu-Oflazer, Piraye P
Publication Date: 2017-11

Variant appearance in text: TG: Ala457Glu
PubMed Link: 28967462
Variant Present in the following documents:
  • Main text
View BVdb publication page