SVEP1 c.4439_4440inv ;(p.T1480R)

Variant ID: 9-113208140-GG-CC

NM_153366.3(SVEP1):c.4439_4440inv;(p.T1480R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.

Circulation. Genomic And Precision Medicine
Coassin, Stefan S; Chemello, Kevin K; Khantalin, Ilya I; Forer, Lukas L; Döttelmayer, Patricia P; Schönherr, Sebastian S; Grüneis, Rebecca R; Chong-Hong-Fong, Clément C; Nativel, Brice B; Ramin-Mangata, Stéphane S; Gallo, Antonio A; Roche, Mathias M; Muelegger, Beatrix B; Gieger, Christian C; Peters, Annette A; Zschocke, Johannes J; Marimoutou, Catherine C; Meilhac, Olivier O; Lamina, Claudia C; Kronenberg, Florian F; Blanchard, Valentin V; Lambert, Gilles G
Publication Date: 2022-04

Variant appearance in text: SVEP1: Thr1480Arg
PubMed Link: 35133173
Variant Present in the following documents:
  • hcg-15-e003489-s001.pdf
View BVdb publication page