PMID: 30255797

Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels.

BMC medical genomics
DC Crawford, NA Restrepo, KE Diggins, E Farber-Eger, QS Wells
2018-09-14

12 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-116701353-C-T APOC3 c.55C>T p.Arg19* Nonsense 2/4 -
11-116701560-G-T APOC3 c.127G>T p.Ala43Ser Missense 3/4 -
11-116701560-G-A APOC3 c.127G>A p.Ala43Thr Missense 3/4 -
11-116701354-G-A APOC3 c.55+1G>A - IntronicSNV - 2/3
11-116691675-T-A APOA4 c.1099A>T p.Thr367Ser Missense 3/3 -
11-116691675-T-C APOA4 c.1099A>G p.Thr367Ala Missense 3/3 -
11-116691634-C-A APOA4 c.1140G>T p.Gln380His Missense 3/3 -
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
11-116692334-C-T APOA4 c.440G>A p.Ser147Asn Missense 3/3 -