PMID: 34573395

Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.

Genes
Lee, Wen-Jane WJ, Chuang, Han-Ni HN, Chen, Yi-Ming YM, Liang, Kae-Woei KW, Tung, Hsin H, Chen, Jun-Peng JP, Lee, I-Te IT, Wang, Jun-Sing JS, Lin, Ching-Heng CH, Lin, Hsueh-Ju HJ, Sheu, Wayne Huey-Herng WH, Lee, Wen-Lieng WL, Hsiao, Tzu-Hung TH
2021-09-14

20 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11227576-C-T LDLR c.1747C>T p.H583Y Missense 12/18 -
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -
19-11213417-G-A LDLR c.268G>A p.D90N Missense 3/18 -
19-11226874-A-G LDLR c.1691A>G p.N564S Missense 11/18 -
2-21229161-G-A APOB c.10579C>T p.R3527W Missense 26/29 -
19-11213441-G-A LDLR c.292G>A p.G98S Missense 3/18 -
19-11230789-A-G LDLR c.1867A>G p.I623V Missense 13/18 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
19-45412048-GCTC-G APOE c.500_502delTCC p.L167del InFrameDeletion 4/4 -
19-11221373-G-A LDLR c.986G>A p.C329Y Missense 7/18 -
19-11222317-T-G LDLR c.1186+2T>G - IntronicSNV - 8/17
19-11227550-G-A LDLR c.1721G>A p.R574H Missense 12/18 -
19-11217315-C-T LDLR c.769C>T p.R257W Missense 5/18 -
2-21229040-G-A APOB c.10700C>T p.T3567M Missense 26/29 -
19-11224008-T-G LDLR c.1241T>G p.L414R Missense 9/18 -
1-55518323-G-A PCSK9 c.658G>A p.A220T Missense 5/12 -
19-11211025-A-T LDLR c.190+4A>T - IntronicSNV - 2/17
19-11217357-G-A LDLR c.811G>A p.V271I Missense 5/18 -
19-11213435-G-A LDLR c.286G>A p.D96N Missense 3/18 -
19-11230788-T-TA LDLR c.1867_1867dup p.I623Nfs*22 Frameshift 13/18 -