PSEN1 c.649G>A ;(p.G217S)

Variant ID: 14-73659452-G-A

NM_000021.3(PSEN1):c.649G>A;(p.G217S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.

Life (Basel, Switzerland)
Gaál, Zsolt Z; Szűcs, Zsuzsanna Z; Kántor, Irén I; Luczay, Andrea A; Tóth-Heyn, Péter P; Benn, Orsolya O; Felszeghy, Enikő E; Karádi, Zsuzsanna Z; Madar, László L; Balogh, István I
Publication Date: 2021-07-30

Variant appearance in text: PS1: 649G>A
PubMed Link: 34440516
Variant Present in the following documents:
  • Main text
  • life-11-00771.pdf
View BVdb publication page



The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

Haematologica
Homan, Claire C CC; King-Smith, Sarah L SL; Lawrence, David M DM; Arts, Peer P; Feng, Jinghua J; Andrews, James J; Armstrong, Mark M; Ha, Thuong T; Dobbins, Julia J; Drazer, Michael W MW; Yu, Kai K; Bödör, Csaba C; Cantor, Alan A; Cazzola, Mario M; Degelman, Erin E; DiNardo, Courtney D CD; Duployez, Nicolas N; Favier, Remi R; Fröhling, Stefan S; Fitzgibbon, Jude J; Klco, Jeffery M JM; Krämer, Alwin A; Kurokawa, Mineo M; Lee, Joanne J; Malcovati, Luca L; Morgan, Neil V NV; Natsoulis, Georges G; Owen, Carolyn C; Patel, Keyur P KP; Preudhomme, Claude C; Raslova, Hana H; Rienhoff, Hugh H; Ripperger, Tim T; Schulte, Rachael R; Tawana, Kiran K; Velloso, Elvira E; Yan, Benedict B; Liu, Paul P; Godley, Lucy A LA; Schreiber, Andreas W AW; Hahn, Christopher N CN; Scott, Hamish S HS; Brown, Anna L AL
Publication Date: 2021-11-01

Variant appearance in text: PS1: 649G>A
PubMed Link: 34233450
Variant Present in the following documents:
  • 2021_278762_HOMAN_TABLE1_SUPPL.xlsx, sheet 1
View BVdb publication page