PMID: 34447653

PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Balkan journal of medical genetics : BJMG
Matías-Pérez, D D, Pérez-Santiago, A D AD, Sánchez Medina, M A MA, Alpuche Osorno, J J JJ, García-Montalvo, I A IA
2021-06

18 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55518081-A-C PCSK9 c.654A>C p.R218S Missense 4/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55518081-A-T PCSK9 c.654A>T p.R218S Missense 4/12 -
1-55523127-G-C PCSK9 c.1120G>C p.D374H Missense 7/12 -
1-55512267-C-G PCSK9 c.471C>G p.N157K Missense 3/12 -
1-55512267-C-A PCSK9 c.471C>A p.N157K Missense 3/12 -
1-55509694-A-G PCSK9 c.386A>G p.D129G Missense 2/12 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
19-45412048-GCTC-G APOE c.500_502delTCC p.L167del InFrameDeletion 4/4 -
19-11224300-G-A LDLR c.1448G>A p.W483* Nonsense 10/18 -
1-55512299-C-A PCSK9 c.503C>A p.A168E Missense 3/12 -
19-11224301-G-A LDLR c.1449G>A p.W483* Nonsense 10/18 -
7-107848050-C-A NRCAM c.1129G>T p.D377Y Missense 13/33 -
1-25880491-C-T LDLRAP1 c.167C>T p.T56M Missense 2/9 -
19-11224299-T-G LDLR c.1447T>G p.W483G Missense 10/18 -
20-3063390-G-C AVP c.381C>G p.S127R Missense 3/3 -
20-3063390-G-T AVP c.381C>A p.S127R Missense 3/3 -
20-3063392-T-G AVP c.379A>C p.S127R Missense 3/3 -