PMID: 25414277

Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Clinical chemistry

M Futema, S Shah, JA Cooper, K Li, RA Whittall, M Sharifi, O Goldberg, E Drogari, V Mollaki, A Wiegman, J Defesche, MN D'Agostino, A D'Angelo, P Rubba, G Fortunato, M Waluś-Miarka, RA Hegele, M Aderayo Bamimore, R Durst, E Leitersdorf, MT Mulder, JE Roeters van Lennep, EJ Sijbrands, JC Whittaker, PJ Talmud, SE Humphries

2015-01

8 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
2-21229160-C-T	APOB	c.10580G>A	p.Arg3527Gln	Missense	26/29	-
19-11202306-G-T	LDLR	c.67+2015G>T	-	IntronicSNV	-	1/17
1-109818306-G-T	CELSR2	c.*1635G>T	-	3-UTRSNV	34/34	-
2-21263900-G-A	APOB	c.293C>T	p.Thr98Ile	Missense	4/29	-
2-44072576-G-C	ABCG8	c.166-718G>C	-	IntronicSNV	-	2/12
2-44072576-G-T	ABCG8	c.166-718G>T	-	IntronicSNV	-	2/12
1-55523127-G-T	PCSK9	c.1120G>T	p.Asp374Tyr	Missense	7/12	-
2-44073881-T-C	ABCG8	c.322+431T>C	-	IntronicSNV	-	3/12