PMID: 32120369

Molecular diagnosis methods in familial hypercholesterolemia.

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

27 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11224285-G-A LDLR c.1433G>A p.Gly478Glu Missense 10/18 -
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
19-45412079-C-T APOE c.526C>T p.Arg176Cys Missense 4/4 -
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 -
19-11231097-T-C LDLR c.2039T>C p.Leu680Pro Missense 14/18 -
19-11240294-ACA-A LDLR c.2495_2496delCA p.Thr832Argfs*3 Frameshift 17/18 -
19-11231301-G-T LDLR c.2140+103G>T - IntronicSNV - 14/17
19-11215988-G-T LDLR c.406G>T p.Asp136Tyr Missense 4/18 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
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
19-11231080-T-TT LDLR c.2022dupT p.Gly675Trpfs*42 Frameshift 14/18 -
19-45411941-T-C APOE c.388T>C p.Cys130Arg Missense 4/4 -
6-26093141-G-A HFE c.845G>A p.Cys282Tyr Missense 4/6 -
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
19-11218965-G-T LDLR c.940+775G>T - IntronicSNV - 6/17
1-55505604-G-A PCSK9 c.94G>A p.Glu32Lys Missense 1/12 -
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
19-11215894-A-G LDLR c.314-2A>G - IntronicSNV - 3/17
19-11216111-T-C LDLR c.529T>C p.Ser177Pro Missense 4/18 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
19-11218965-G-A LDLR c.940+775G>A - IntronicSNV - 6/17
19-11213419-T-A LDLR c.270T>A p.Asp90Glu Missense 3/18 -
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10