PMID: 35406116

Diabetes and Familial Hypercholesterolemia: Interplay between Lipid and Glucose Metabolism.

González-Lleó, Ana M AM, Sánchez-Hernández, Rosa María RM, Boronat, Mauro M, Wägner, Ana M AM

6 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
19-11223968-CTCT-C LDLR c.1207_1209delTTC p.F403del InFrameDeletion 9/18 -
4-68472059-A-G STAP1 c.872A>G p.N291S Missense 9/9 -
8-21986183-CTAG-C HR c.499_501delCTA p.L167del InFrameDeletion 2/19 -
5-74646107-C-T HMGCR c.688C>T p.R230C Missense 8/20 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55524313-G-A PCSK9 c.1496G>A p.R499H Missense 9/12 -