PMID: 23776352

The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

The application of clinical genetics

I De Castro-Orós, M Pocoví, F Civeira

2010

5 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55512267-C-A	PCSK9	c.471C>A	p.Asn157Lys	Missense	3/12	-
1-55523127-G-T	PCSK9	c.1120G>T	p.Asp374Tyr	Missense	7/12	-
1-55509689-T-A	PCSK9	c.381T>A	p.Ser127Arg	Missense	2/12	-
1-55512222-C-G	PCSK9	c.426C>G	p.Tyr142*	Nonsense	3/12	-
1-55529215-C-A	PCSK9	c.2037C>A	p.Cys679*	Nonsense	12/12	-