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 WaluĊ›-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

18 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
2-44074000-G-A ABCG8 c.322+550G>A - IntronicSNV - 3/12
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
10-113933886-A-T GPAM c.414-283T>A - IntronicSNV - 6/21
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
10-113933886-A-G GPAM c.414-283T>C - IntronicSNV - 6/21
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
6-32412435-G-A HLA-DRA c.*18G>A - 3_prime_UTR_variant 5/5 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -
1-220973563-C-T MARC1 c.753+2207C>T - IntronicSNV - 4/6
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12