PMID: 26679785

Apolipoprotein A-V gene therapy for disease prevention / treatment: a critical analysis.

Journal of biomedical research
TM Forte, V Sharma, RO Ryan
2016-03

13 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-116662543-AGAGCCCAGGTGAGCACGGCAGCCA-A APOA5 c.16_39del24 p.Ala6_ala13del InFrameDeletion 2/4 -
11-116661503-G-A APOA5 c.442C>T p.Gln148* Nonsense 4/4 -
11-116661008-G-A APOA5 c.937C>T p.Gln313* Nonsense 4/4 -
11-116661599-C-A APOA5 c.346G>T p.Glu116* Nonsense 4/4 -
11-116661656-G-A APOA5 c.289C>T p.Gln97* Nonsense 4/4 -
8-133885381-G-T TG c.553G>T p.Ala185Ser Missense 5/48 -
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
11-116661530-G-A APOA5 c.415C>T p.Gln139* Nonsense 4/4 -
11-116661662-G-A APOA5 c.283C>T p.Gln95* Nonsense 4/4 -
11-116661392-C-T APOA5 c.553G>A p.Gly185Ser Missense 4/4 -
11-116661392-C-A APOA5 c.553G>T p.Gly185Cys Missense 4/4 -
11-116661062-G-A APOA5 c.883C>T p.Gln295* Nonsense 4/4 -
8-133879301-C-G TG c.56C>G p.Ala19Gly Missense 1/48 -