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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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