PMID: 34666015

Genetic testing for Familial Hypercholesterolaemia - Past, Present and Future.

Journal of lipid research

Futema, Marta M, Taylor-Beadling, Alison A, Williams, Maggie M, Humphries, Steve E SE

2021-10-16

6 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55523127-G-T	PCSK9	c.1120G>T	p.D374Y	Missense	7/12	-
2-21229160-C-T	APOB	c.10580G>A	p.R3527Q	Missense	26/29	-
19-11213463-G-A	LDLR	c.313+1G>A	-	IntronicSNV	-	3/17
19-45412048-GCTC-G	APOE	c.500_502delTCC	p.L167del	InFrameDeletion	4/4	-
2-21229161-G-A	APOB	c.10579C>T	p.R3527W	Missense	26/29	-
19-11210962-G-A	LDLR	c.131G>A	p.W44*	Nonsense	2/18	-