PMID: 28104544

Molecular genetics of familial hypercholesterolemia in Israel-revisited.

Atherosclerosis
R Durst, UK Ibe, S Shpitzen, D Schurr, O Eliav, M Futema, R Whittall, A Szalat, V Meiner, H Knobler, D Gavish, Y Henkin, A Ellis, A Rubinstein, D Harats, R Bitzur, B Hershkovitz, SE Humphries, E Leitersdorf
2017-02

24 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11216203-C-G LDLR c.621C>G p.Gly207Gly Synonymous 4/18 -
19-11216203-C-T LDLR c.621C>T p.Gly207Gly Synonymous 4/18 -
19-11218079-G-A LDLR c.829G>A p.Glu277Lys Missense 6/18 -
2-21260009-GCGG-G APOB c.655_657delCGC p.Arg219delArg InFrameDeletion 6/29 -
19-11216001-A-C LDLR c.419A>C p.Glu140Ala Missense 4/18 -
19-11224013-C-T LDLR c.1246C>T p.Arg416Trp Missense 9/18 -
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
19-11221357-G-A LDLR c.970G>A p.Gly324Ser Missense 7/18 -
19-11240278-G-A LDLR c.2479G>A p.Val827Ile Missense 17/18 -
1-241667510-C-T FH c.940G>A p.Ala314Thr Missense 7/10 -
19-11224422-GGTGGATCCTG-G LDLR c.1570_1579delGTGGATCCTG p.Val524Phefs*21 Frameshift 10/18 -
19-11226822-C-G LDLR c.1639C>G p.Leu547Val Missense 11/18 -
19-11218190-G-A LDLR c.940G>A p.Gly314Arg Missense 6/18 -
19-11216084-G-C LDLR c.502G>C p.Asp168His Missense 4/18 -
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
19-11216236-GTGG-G LDLR c.654_656delTGG p.Gly219delGly InFrameDeletion 4/18 -
19-11224058-G-A LDLR c.1291G>A p.Ala431Thr Missense 9/18 -
19-11231112-C-T LDLR c.2054C>T p.Pro685Leu Missense 14/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11231101-C-A LDLR c.2043C>A p.Cys681* Nonsense 14/18 -
2-21229161-G-A APOB c.10579C>T p.Arg3527Trp Missense 26/29 -
19-11238761-G-A LDLR c.2389G>A p.Val797Met Missense 16/18 -
19-11215944-G-C LDLR c.362G>C p.Cys121Ser Missense 4/18 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -