PMID: 23241513

Influence of apolipoprotein A-V on the metabolic fate of triacylglycerol.

Current opinion in lipidology
V Sharma, TM Forte, RO Ryan

5 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
11-116661530-G-A APOA5 c.415C>T p.Gln139* Nonsense 4/4 -
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
19-34887552-T-C GPI c.1259T>C p.Leu420Pro Missense 14/18 -
11-116661392-C-A APOA5 c.553G>T p.Gly185Cys Missense 4/4 -
8-144297182-A-C GPIHBP1 c.344A>C p.Gln115Pro Missense 4/4 -