PMID: 34575654

Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal of personalized medicine
Hindi, Nagham N NN, Alenbawi, Jamil J, Nemer, Georges G
2021-08-31

62 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -
12-21331549-T-C SLCO1B1 c.521T>C p.V174A Missense 6/15 -
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
4-89052323-G-T ABCG2 c.421C>A p.Q141K Missense 5/16 -
8-18258316-G-A NAT2 c.803G>A p.R268K Missense 2/2 -
8-18258316-G-T NAT2 c.803G>T p.R268I Missense 2/2 -
12-21329738-A-G SLCO1B1 c.388A>G p.N130D Missense 5/15 -
4-89052323-G-C ABCG2 c.421C>G p.Q141E Missense 5/16 -
2-169830328-A-G ABCB11 c.1331T>C p.V444A Missense 13/28 -
14-23895180-G-A MYH7 c.2155C>T p.R719W Missense 19/40 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
19-11230881-T-C LDLR c.1959T>C p.V653= Synonymous 13/18 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
2-21229160-C-T APOB c.10580G>A p.R3527Q Missense 26/29 -
19-11233886-C-T LDLR c.2177C>T p.T726I Missense 15/18 -
19-11231058-G-A LDLR c.2000G>A p.C667Y Missense 14/18 -
19-11231083-CG-C LDLR c.2027delG p.G676Afs*33 Frameshift 14/18 -
19-11227602-C-T LDLR c.1773C>T p.N591= Synonymous 12/18 -
19-11242658-T-A LDLR c.*666T>A - 3-UTRSNV 18/18 -
19-11242658-T-C LDLR c.*666T>C - 3-UTRSNV 18/18 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
19-45412048-GCTC-G APOE c.500_502delTCC p.L167del InFrameDeletion 4/4 -
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
19-11221414-GGC-AAG LDLR c.1027_1029delGGCinsAAG p.G343K Missense 7/18 -
19-11218152-A-G LDLR c.902A>G p.D301G Missense 6/18 -
19-11240274-C-G LDLR c.2475C>G p.N825K Missense 17/18 -
19-11240274-C-A LDLR c.2475C>A p.N825K Missense 17/18 -
19-11231112-C-T LDLR c.2054C>T p.P685L Missense 14/18 -
19-11213450-G-A LDLR c.301G>A p.E101K Missense 3/18 -
19-11226829-G-A LDLR c.1646G>A p.G549D Missense 11/18 -
19-11237772-A-G LDLR c.2312-912A>G - IntronicSNV - 15/17
19-11213408-T-G LDLR c.259T>G p.W87G Missense 3/18 -
19-11231101-C-A LDLR c.2043C>A p.C681* Nonsense 14/18 -
6-16145325-A-G MYLIP c.1025A>G p.N342S Missense 6/7 -
19-11217307-A-C LDLR c.761A>C p.Q254P Missense 5/18 -
19-11226829-G-T LDLR c.1646G>T p.G549V Missense 11/18 -
1-55546696-T-C USP24 c.7078+299A>G - IntronicSNV - 59/67
3-113046640-A-G CFAP44 c.4143T>C p.D1381= Synonymous 27/35 -
7-44571657-G-A NPC1L1 c.2547+22C>T - IntronicSNV - 9/18
7-44571657-G-C NPC1L1 c.2547+22C>G - IntronicSNV - 9/18
7-44571657-G-T NPC1L1 c.2547+22C>A - IntronicSNV - 9/18
5-74654547-T-C HMGCR c.2052T>C p.S684= Synonymous 16/20 -
19-11200225-A-G LDLR c.1A>G p.M1? Missense 1/18 -
17-17721191-C-G SREBF1 c.1223G>C p.G408A Missense 7/19 -
2-44065035-A-T ABCG5 c.203T>A p.I68N Missense 2/13 -
1-55505646-C-T PCSK9 c.136C>T p.R46C Missense 1/12 -
3-113152511-T-C CFAP44 c.1A>G p.M1? Missense 2/35 -
19-11210970-G-A LDLR c.139G>A p.D47N Missense 2/18 -
19-11213438-A-C LDLR c.289A>C p.N97H Missense 3/18 -
19-11227574-T-C LDLR c.1745T>C p.L582P Missense 12/18 -
19-11216045-T-G LDLR c.463T>G p.C155G Missense 4/18 -
2-169830328-A-C ABCB11 c.1331T>G p.V444G Missense 13/28 -
2-169830328-A-T ABCB11 c.1331T>A p.V444D Missense 13/28 -
6-160966546-C-G LPA c.5324G>C p.G1775A Missense 33/39 -
3-58124084-G-C FLNB c.4937G>C p.G1646A Missense 29/46 -
19-11224068-C-G LDLR c.1301C>G p.T434R Missense 9/18 -
3-58094223-C-A FLNB c.1980C>A p.C660* Nonsense 13/46 -
19-11221441-T-A LDLR c.1054T>A p.C352S Missense 7/18 -
19-11221442-G-C LDLR c.1055G>C p.C352S Missense 7/18 -
19-11222232-G-A LDLR c.1103G>A p.C368Y Missense 8/18 -
19-11230801-AG-A LDLR c.1879delG p.A627Pfs*38 Frameshift 13/18 -
19-11210968-G-T LDLR c.137G>T p.C46F Missense 2/18 -