PMID: 35133173

Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoproteinemia 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, Mühlegger, 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
2022-02-08

41 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-161085295-A-G LPA c.1-49T>C - IntronicSNV 1/39 -
6-161085267-C-G LPA c.1-21G>C - 5-UTRSNV 1/39 -
6-161085267-C-T LPA c.1-21G>A - 5-UTRSNV 1/39 -
18-56985729-G-A CPLX4 c.1-35C>T - 5-UTRSNV 1/3 -
12-125263084-G-A SCARB1 c.*49C>T - 3_prime_UTR_variant 13/13 -
4-38830514-A-G TLR6 c.581T>C p.L194P Missense 2/2 -
4-38829702-C-T TLR6 c.1393G>A p.V465I Missense 2/2 -
4-38830736-A-G TLR6 c.359T>C p.I120T Missense 2/2 -
5-150632832-G-A GM2A c.55G>A p.A19T Missense 1/4 -
5-150647156-T-C GM2A c.*144T>C - 3-UTRSNV 4/4 -
5-150647040-C-T GM2A c.*28C>T - 3-UTRSNV 4/4 -
8-33370261-G-A TTI2 c.1-130C>T - IntronicSNV - 1/7
5-150562992-T-C CCDC69 c.*6A>G - 3-UTRSNV 9/9 -
18-56963852-T-C CPLX4 c.*78A>G - 3-UTRSNV 3/3 -
18-56963852-T-G CPLX4 c.*78A>C - 3-UTRSNV 3/3 -
6-160404044-C-T IGF2R c.150-8172C>T - IntronicSNV - 1/47
5-150480520-C-T ANXA6 c.*489G>A - 3-UTRSNV 26/26 -
18-56963767-C-G CPLX4 c.*163G>C - 3-UTRSNV 3/3 -
2-21225753-C-T APOB c.12541G>A p.E4181K Missense 29/29 -
6-161010118-A-G LPA c.3947+467T>C - IntronicSNV - 24/38
11-46761055-G-A F2 c.*97G>A - 3-UTRSNV 14/14 -
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
6-158517188-C-T SYNJ2 c.4283C>T p.T1428I Missense 27/27 -
18-57026422-C-T LMAN1 c.55G>A p.A19T Missense 1/13 -
2-21232175-C-T APOB c.7565G>A p.R2522Q Missense 26/29 -
5-150175153-C-T SMIM3 c.151C>T p.R51W Missense 2/2 -
9-113208140-GG-CC SVEP1 c.4439_4440delCCinsGG p.T1480R Missense 26/48 -
4-38830234-T-C TLR6 c.861A>G p.T287= Synonymous 2/2 -
22-38073044-C-T LGALS1 c.61C>T p.R21* Nonsense 2/4 -
9-113261483-C-T SVEP1 c.1519G>A p.V507I Missense 7/48 -
6-160961137-T-C LPA c.5673A>G p.I1891M Missense 36/39 -
6-160557643-C-T SLC22A1 c.1022C>T p.P341L Missense 6/11 -
6-160557643-C-G SLC22A1 c.1022C>G p.P341R Missense 6/11 -
19-11227554-C-T LDLR c.1725C>T p.L575= Synonymous 12/18 -
12-125348263-C-T SCARB1 c.4G>A p.G2S Missense 1/13 -
19-11242044-G-A LDLR c.*52G>A - 3-UTRSNV 18/18 -
2-170044661-G-A LRP2 c.9147C>T p.F3049= Synonymous 49/79 -
6-161013013-T-C LPA c.3630-880A>G - IntronicSNV - 22/38
18-57026361-A-G LMAN1 c.116T>C p.V39A Missense 1/13 -
2-21249716-C-T APOB c.2188G>A p.V730I Missense 15/29 -