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 -