PMID: 29213121

The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.

Scientific reports
Fairoozy, R H RH, Futema, M M, Vakili, R R, Abbaszadegan, M R MR, Hosseini, S S, Aminzadeh, M M, Zaeri, H H, Mobini, M M, Humphries, S E SE, Sahebkar, A A
2017-12-06

9 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11226782-G-A LDLR c.1599G>A p.W533* Nonsense 11/18 -
19-11215971-C-G LDLR c.389C>G p.S130* Nonsense 4/18 -
19-11231059-TG-GT LDLR c.2001_2002delinsGT p.C667_E668delinsW* MultiAAMissense 14/18 -
19-11231059-T-G LDLR c.2001T>G p.C667W Missense 14/18 -
19-11240210-T-TG LDLR c.2416_2416dup p.V806Gfs*11 Frameshift 17/18 -
19-11224288-T-A LDLR c.1436T>A p.L479Q Missense 10/18 -
19-11227558-T-C LDLR c.1729T>C p.W577R Missense 12/18 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
19-11233854-T-TG LDLR c.2146_2146dupG p.E716Gfs*66 Frameshift 15/18 -