PMID: 23997648

Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.

Current genomics
A Jelassi, M Najah, A Slimani, I Jguirim, MN Slimane, M Varret
2013-03

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
2-21252820-T-C APOB c.1420A>G p.Ile474Val Missense 11/29 -
19-11216025-G-C LDLR c.443G>C p.Cys148Ser Missense 4/18 -
19-11234008-AA-A LDLR c.2299delA p.Met767Cysfs*21 Frameshift 15/18 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
19-11227675-G-A LDLR c.1845+1G>A - IntronicSNV - 12/17
19-11217342-G-A LDLR c.796G>A p.Asp266Asn Missense 5/18 -
1-55512316-C-T PCSK9 c.520C>T p.Pro174Ser Missense 3/12 -
19-11221414-G-T LDLR c.1027G>T p.Gly343Cys Missense 7/18 -
19-11213416-C-G LDLR c.267C>G p.Cys89Trp Missense 3/18 -
19-11240245-A-T LDLR c.2446A>T p.Lys816* Nonsense 17/18 -
19-11222316-G-A LDLR c.1186+1G>A - IntronicSNV - 8/17