PMID: 23151256

APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.

BMC medical genetics
C Dussaillant, V Serrano, A Maiz, S Eyheramendy, LR Cataldo, M Chavez, SV Smalley, M Fuentes, A Rigotti, L Rubio, CF Lagos, JA Martinez, JL Santos
2012-11-15

8 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
11-116633947-G-A BUD13 c.358C>T p.Arg120Cys Missense 4/10 -
11-116661530-G-A APOA5 c.415C>T p.Gln139* Nonsense 4/4 -
X-46459128-G-T SLC9A7 c.*7259C>A - 3-UTRSNV 17/17 -
11-116631391-T-C BUD13 c.1254+60A>G - IntronicSNV - 5/9
11-116661503-G-A APOA5 c.442C>T p.Gln148* Nonsense 4/4 -
11-116728277-G-A SIK3 c.3511+249C>T - intron_variant - 20/23
11-116661656-G-A APOA5 c.289C>T p.Gln97* Nonsense 4/4 -