PMID: 27179706

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.

Atherosclerosis
A Rimbert, M Pichelin, S Lecointe, M Marrec, S Le Scouarnec, E Barrak, M Croyal, M Krempf, H Le Marec, R Redon, JJ Schott, J Magré, B Cariou
2016-07

10 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55518020-G-A PCSK9 c.593G>A p.Gly198Asp Missense 4/12 -
2-21232029-G-A APOB c.7711C>T p.Gln2571* Nonsense 26/29 -
2-21228587-G-T APOB c.11153C>A p.Ser3718* Nonsense 26/29 -
2-21228587-G-C APOB c.11153C>G p.Ser3718* Nonsense 26/29 -
1-55512319-G-A PCSK9 c.523G>A p.Asp175Asn Missense 3/12 -
10-104416842-CGC-TGG TRIM8 c.1387_1389delCGCinsTGG p.Arg463Trp Missense 6/6 -
2-21230941-G-T APOB c.8799C>A p.Cys2933* Nonsense 26/29 -
8-134125804-G-A TG c.7711G>A p.Asp2571Asn Missense 44/48 -
2-21246468-G-A APOB c.2533C>T p.Gln845* Nonsense 17/29 -
4-100543853-G-A MTTP c.2533G>A p.Glu845Lys Missense 19/19 -