PMID: 33133164

Genetics of Familial Hypercholesterolemia: New Insights.

Frontiers in genetics
M Vrablik, L Tichý, T Freiberger, V Blaha, M Satny, JA Hubacek
2020

20 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
10-90983467-C-A LIPA c.796G>T p.Gly266* Nonsense 7/10 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
19-11217344-T-A LDLR c.798T>A p.Asp266Glu Missense 5/18 -
10-90984925-A-G LIPA c.599T>C p.Leu200Pro Missense 6/10 -
15-58855756-G-A LIPC c.1222G>A p.Val408Met Missense 8/9 -
19-11216244-A-G LDLR c.662A>G p.Asp221Gly Missense 4/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11224013-C-T LDLR c.1246C>T p.Arg416Trp Missense 9/18 -
19-11224419-G-A LDLR c.1567G>A p.Val523Met Missense 10/18 -
1-25870255-G-A LDLRAP1 c.66G>A p.Trp22* Nonsense 1/9 -
1-25883731-C-CA LDLRAP1 c.432_433insA p.Ala145Serfs*26 Frameshift 4/9 -
1-25870254-G-A LDLRAP1 c.65G>A p.Trp22* Nonsense 1/9 -
19-11216208-G-A LDLR c.626G>A p.Cys209Tyr Missense 4/18 -
19-11227604-G-A LDLR c.1775G>A p.Gly592Glu Missense 12/18 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
19-11222190-A-C LDLR c.1061A>C p.Asp354Ala Missense 8/18 -
19-11224326-G-A LDLR c.1474G>A p.Asp492Asn Missense 10/18 -
2-21229161-G-A APOB c.10579C>T p.Arg3527Trp Missense 26/29 -
2-44051154-G-A ABCG5 c.1222C>T p.Arg408* Nonsense 9/13 -
2-44099233-G-A ABCG8 c.1083G>A p.Trp361* Nonsense 7/13 -