PMID: 27777316

The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal of lipid research
R Mehta, R Zubirán, AJ Martagón, A Vazquez-Cárdenas, Y Segura-Kato, MT Tusié-Luna, CA Aguilar-Salinas
2016-12

38 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11224058-G-A LDLR c.1291G>A p.Ala431Thr Missense 9/18 -
19-11222219-T-C LDLR c.1090T>C p.Cys364Arg Missense 8/18 -
2-21229061-T-C APOB c.10679A>G p.Tyr3560Cys Missense 26/29 -
1-241667402-G-A FH c.1048C>T p.Arg350Trp Missense 7/10 -
19-11221364-C-G LDLR c.977C>G p.Ser326Cys Missense 7/18 -
19-11231154-C-T LDLR c.2096C>T p.Pro699Leu Missense 14/18 -
19-11221442-G-A LDLR c.1055G>A p.Cys352Tyr Missense 7/18 -
1-241667395-C-T FH c.1055G>A p.Gly352Asp Missense 7/10 -
19-11216244-A-G LDLR c.662A>G p.Asp221Gly Missense 4/18 -
9-107620835-G-A ABCA1 c.688C>T p.Arg230Cys Missense 7/50 -
19-11226801-G-A LDLR c.1618G>A p.Ala540Thr Missense 11/18 -
19-11231101-C-A LDLR c.2043C>A p.Cys681* Nonsense 14/18 -
1-55527216-C-A PCSK9 c.1850C>A p.Ala617Asp Missense 11/12 -
19-11226817-G-C LDLR c.1634G>C p.Gly545Ala Missense 11/18 -
19-11216112-C-T LDLR c.530C>T p.Ser177Leu Missense 4/18 -
9-107599350-C-T ABCA1 c.1222G>A p.Val408Met Missense 11/50 -
19-11224438-G-A LDLR c.1586G>A p.Gly529Asp Missense 10/18 -
19-11233973-GCCACCCCTGG-G LDLR c.2264_2273delCCACCCCTGG p.Ala755Glyfs*7 Frameshift 15/18 -
19-11216264-G-A LDLR c.682G>A p.Glu228Lys Missense 4/18 -
19-11200228-G-C LDLR c.4G>C p.Gly2Arg Missense 1/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
2-21229068-G-A APOB c.10672C>T p.Arg3558Cys Missense 26/29 -
1-241671979-T-C FH c.662A>G p.Lys221Arg Missense 5/10 -
9-107607805-C-T ABCA1 c.766G>A p.Glu256Lys Missense 8/50 -
19-11231112-CC-C LDLR c.2054delC p.Pro685Argfs*24 Frameshift 14/18 -
9-107602700-G-C ABCA1 c.914C>G p.Ser305Cys Missense 9/50 -
19-11215918-C-CT LDLR c.336_337insT p.Glu113*fs*1 Nonsense 4/18 -
19-11231151-G-A LDLR c.2093G>A p.Cys698Tyr Missense 14/18 -
1-241676942-A-AC FH c.338_339insG p.Asp113Glufs*6 Frameshift 3/10 -
9-107666007-G-T ABCA1 c.1-47C>A - 5-UTRSNV 2/50 -
1-241675292-G-A FH c.530C>T p.Pro177Leu Missense 4/10 -
19-11222247-G-A LDLR c.1118G>A p.Gly373Asp Missense 8/18 -
19-11215919-G-GG LDLR c.337dupG p.Glu113Glyfs*17 Frameshift 4/18 -
19-11221414-G-A LDLR c.1027G>A p.Gly343Ser Missense 7/18 -
19-11231088-G-A LDLR c.2030G>A p.Cys677Tyr Missense 14/18 -
19-11227630-G-C LDLR c.1801G>C p.Asp601His Missense 12/18 -
19-11213432-T-G LDLR c.283T>G p.Cys95Gly Missense 3/18 -