PMID: 33133164

Genetics of Familial Hypercholesterolemia: New Insights.

Frontiers in genetics
Vrablik, Michal M, Tichý, Lukas L, Freiberger, Tomas T, Blaha, Vladimir V, Satny, Martin M, Hubacek, Jaroslav A JA
2020

25 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-44099233-G-A ABCG8 c.1083G>A p.W361* Nonsense 7/13 -
19-11224013-C-T LDLR c.1246C>T p.R416W Missense 9/18 -
2-21229160-C-T APOB c.10580G>A p.R3527Q Missense 26/29 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55509687-A-C PCSK9 c.379A>C p.S127R Missense 2/12 -
2-21229161-G-A APOB c.10579C>T p.R3527W Missense 26/29 -
19-11217344-T-A LDLR c.798T>A p.D266E Missense 5/18 -
1-25870254-G-A LDLRAP1 c.65G>A p.W22* Nonsense 1/9 -
19-11224326-G-A LDLR c.1474G>A p.D492N Missense 10/18 -
19-11224419-G-A LDLR c.1567G>A p.V523M Missense 10/18 -
1-25883731-C-CA LDLRAP1 c.432_433insA p.A145Sfs*26 Frameshift 4/9 -
19-11227604-G-A LDLR c.1775G>A p.G592E Missense 12/18 -
19-11216244-A-G LDLR c.662A>G p.D221G Missense 4/18 -
2-21224811-ACTG-A APOB c.13480_13482delCAG p.Q4494del InFrameDeletion 29/29 -
2-21238259-C-G APOB c.3491G>C p.R1164T Missense 22/29 -
10-90984925-A-G LIPA c.599T>C p.L200P Missense 6/10 -
19-11216208-G-A LDLR c.626G>A p.C209Y Missense 4/18 -
19-11222190-A-C LDLR c.1061A>C p.D354A Missense 8/18 -
1-25870255-G-A LDLRAP1 c.66G>A p.W22* Nonsense 1/9 -
10-90983467-C-A LIPA c.796G>T p.G266* Nonsense 7/10 -
2-44099232-G-A ABCG8 c.1082G>A p.W361* Nonsense 7/13 -
2-44051154-G-A ABCG5 c.1222C>T p.R408* Nonsense 9/13 -
15-58855756-G-A LIPC c.1222G>A p.V408M Missense 8/9 -