PMID: 34447653

PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

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

11 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509694-A-G PCSK9 c.386A>G p.Asp129Gly Missense 2/12 -
1-55512267-C-A PCSK9 c.471C>A p.Asn157Lys Missense 3/12 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
20-3063392-T-G AVP c.379A>C p.Ser127Arg Missense 3/3 -
1-55512299-C-A PCSK9 c.503C>A p.Ala168Glu Missense 3/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
20-3063390-G-T AVP c.381C>A p.Ser127Arg Missense 3/3 -
7-107848050-C-A NRCAM c.1129G>T p.Asp377Tyr Missense 13/33 -
20-3063390-G-C AVP c.381C>G p.Ser127Arg Missense 3/3 -
19-45412053-CTCC-C APOE c.500_502delTCC p.Leu167delLeu InFrameDeletion 4/4 -
1-55523127-G-C PCSK9 c.1120G>C p.Asp374His Missense 7/12 -