PMID: 32120369

Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian journal of cardiology
Moldovan, Valeriu V, Banescu, Claudia C, Dobreanu, Minodora M
2020-02

24 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
19-11218965-G-T LDLR c.940+775G>T - IntronicSNV - 6/17
19-11231301-G-T LDLR c.2140+103G>T - IntronicSNV - 14/17
11-126243952-G-A ST3GAL4 c.-61+18215G>A - intron_variant - 1/10
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
19-11218965-G-A LDLR c.940+775G>A - IntronicSNV - 6/17
2-21229160-C-T APOB c.10580G>A p.R3527Q Missense 26/29 -
2-21263900-G-A APOB c.293C>T p.T98I Missense 4/29 -
19-11231097-T-C LDLR c.2039T>C p.L680P Missense 14/18 -
19-11215988-G-T LDLR c.406G>T p.D136Y Missense 4/18 -
19-11216111-T-C LDLR c.529T>C p.S177P Missense 4/18 -
1-55524303-C-T PCSK9 c.1486C>T p.R496W Missense 9/12 -
19-11213419-T-G LDLR c.270T>G p.D90E Missense 3/18 -
19-11213419-T-A LDLR c.270T>A p.D90E Missense 3/18 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
19-11224285-G-A LDLR c.1433G>A p.G478E Missense 10/18 -
14-24883887-G-A NYNRIN c.2932G>A p.A978T Missense 9/9 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
19-11231079-A-AT LDLR c.2022dupT p.G675Wfs*42 Frameshift 14/18 -
19-11240291-CCA-C LDLR c.2495_2496delCA p.T832Rfs*3 Frameshift 17/18 -