PMID: 24956927

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

BMC medical genetics
PJ Norsworthy, J Vandrovcova, ER Thomas, A Campbell, SM Kerr, J Biggs, L Game, AK Soutar, BH Smith, AF Dominiczak, DJ Porteous, AD Morris, G Scotland, TJ Aitman
2014-06-23

13 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11233940-G-A LDLR c.2231G>A p.Arg744Gln Missense 15/18 -
19-11217264-G-A LDLR c.718G>A p.Glu240Lys Missense 5/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11234003-T-G LDLR c.2294T>G p.Val765Gly Missense 15/18 -
1-55509582-G-A PCSK9 c.274G>A p.Glu92Lys Missense 2/12 -
19-11210979-G-T LDLR c.148G>T p.Ala50Ser Missense 2/18 -
19-11240278-G-A LDLR c.2479G>A p.Val827Ile Missense 17/18 -
19-11213417-G-A LDLR c.268G>A p.Asp90Asn Missense 3/18 -
19-11222262-A-C LDLR c.1133A>C p.Gln378Pro Missense 8/18 -
19-11213381-C-T LDLR c.232C>T p.Arg78Cys Missense 3/18 -
19-11215908-G-A LDLR c.326G>A p.Cys109Tyr Missense 4/18 -
19-11216275-C-G LDLR c.693C>G p.Cys231Trp Missense 4/18 -
19-11227645-G-T LDLR c.1816G>T p.Ala606Ser Missense 12/18 -