PMID: 30971288

Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lipids in health and disease
C Lee, Y Cui, J Song, S Li, F Zhang, M Wu, L Li, D Hu, H Chen
2019-04-11

19 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11210960-G-C LDLR c.129G>C p.Lys43Asn Missense 2/18 -
1-55512313-C-T PCSK9 c.517C>T p.Pro173Ser Missense 3/12 -
19-11226874-A-G LDLR c.1691A>G p.Asn564Ser Missense 11/18 -
2-21229161-G-A APOB c.10579C>T p.Arg3527Trp Missense 26/29 -
1-25881393-G-A LDLRAP1 c.274G>A p.Val92Met Missense 3/9 -
1-55527158-G-A PCSK9 c.1792G>A p.Ala598Thr Missense 11/12 -
19-11238692-G-A LDLR c.2320G>A p.Asp774Asn Missense 16/18 -
1-55509585-C-T PCSK9 c.277C>T p.Arg93Cys Missense 2/12 -
19-11218178-A-T LDLR c.928A>T p.Ile310Phe Missense 6/18 -
19-11231112-C-T LDLR c.2054C>T p.Pro685Leu Missense 14/18 -
19-11221444-G-A LDLR c.1057G>A p.Glu353Lys Missense 7/18 -
19-11213441-G-A LDLR c.292G>A p.Gly98Ser Missense 3/18 -
1-25870254-G-C LDLRAP1 c.65G>C p.Trp22Ser Missense 1/9 -
19-11213390-C-T LDLR c.241C>T p.Arg81Cys Missense 3/18 -
1-55529132-A-G PCSK9 c.1954A>G p.Asn652Asp Missense 12/12 -
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
19-11224368-G-A LDLR c.1516G>A p.Val506Met Missense 10/18 -
19-11230789-A-T LDLR c.1867A>T p.Ile623Phe Missense 13/18 -
19-11224377-A-G LDLR c.1525A>G p.Lys509Glu Missense 10/18 -