PMID: 32307928

A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.

Molecular genetics & genomic medicine
LG Leal, C Hoggart, MR Jarvelin, KH Herzig, MJE Sternberg, A David
2020-06

20 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-45447221-G-A APOC4 c.77-785G>A - IntronicSNV - 1/2
5-74955841-G-A ANKDD1B c.1095+635G>A - IntronicSNV - 10/13
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -
11-61609750-C-T FADS2 c.618+1553C>T - IntronicSNV - 4/11
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
1-109838264-A-G MYBPHL c.868-345T>C - IntronicSNV - 6/8
1-55656075-G-T USP24 c.325-12270C>A - IntronicSNV - 1/67
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
19-10916684-C-G DNM2 c.1545+41C>G - IntronicSNV - 13/19
19-45373565-G-A NECTIN2 c.479-1545G>A - IntronicSNV - 2/5
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
19-11163562-C-T SMARCA4 c.4425-5369C>T - IntronicSNV - 30/34
19-10916684-C-T DNM2 c.1545+41C>T - IntronicSNV - 13/19
2-44074000-G-A ABCG8 c.322+550G>A - IntronicSNV - 3/12
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
19-45382034-A-G NECTIN2 c.*157A>G - 3-UTRSNV 6/6 -