Variant ID: 1-55521857-C-G

NM_174936.3(PCSK9):c.991C>G;(p.P331A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Scientific Reports
Di Taranto, Maria Donata MD; Benito-Vicente, Asier A; Giacobbe, Carola C; Uribe, Kepa Belloso KB; Rubba, Paolo P; Etxebarria, Aitor A; Guardamagna, Ornella O; Gentile, Marco M; Martín, Cesar C; Fortunato, Giuliana G
Publication Date: 2017-11-10

Variant appearance in text: PCSK9: 991C>G; Pro331Ala
PubMed Link: 29127338
Variant Present in the following documents:
  • Main text
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