PMID: 28405938

Genetic Architecture of Familial Hypercholesterolaemia.

Current cardiology reports
M Sharifi, M Futema, D Nair, SE Humphries
2017-05

7 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-21238259-C-G APOB c.3491G>C p.Arg1164Thr Missense 22/29 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
2-21265322-G-A APOB c.148C>T p.Arg50Trp Missense 3/29 -
19-45412053-CTCC-C APOE c.500_502delTCC p.Leu167delLeu InFrameDeletion 4/4 -
2-21224815-GCTG-G APOB c.13480_13482delCAG p.Gln4494delGln InFrameDeletion 29/29 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -