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	-