PMID: 23593297

Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.

PloS one
SH Lye, JK Chahil, P Bagali, L Alex, J Vadivelu, WA Ahmad, SP Chan, MK Thong, SM Zain, R Mohamed
2013

18 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-161013121-C-T USF1 c.1-56G>A - 5-UTRSNV 2/11 -
2-21236085-C-T APOB c.4163G>A p.Arg1388His Missense 25/29 -
1-55515234-C-A PCSK9 c.524-2717C>A - IntronicSNV - 3/11
19-11218965-G-T LDLR c.940+775G>T - IntronicSNV - 6/17
19-11218965-G-A LDLR c.940+775G>A - IntronicSNV - 6/17
2-21243306-C-T APOB c.2817-529G>A - IntronicSNV - 18/28
1-55524601-G-C PCSK9 c.1503+281G>C - IntronicSNV - 9/11
1-55524601-G-A PCSK9 c.1503+281G>A - IntronicSNV - 9/11
2-21264937-T-G APOB c.237+296A>C - IntronicSNV - 3/28
2-21266659-C-G APOB c.82+77G>C - IntronicSNV - 1/28
2-21264937-T-A APOB c.237+296A>T - IntronicSNV - 3/28
2-21252534-G-A APOB c.1594C>T p.Arg532Trp Missense 12/29 -
2-21249840-A-T APOB c.2068-4T>A - IntronicSNV - 14/28
2-21247065-T-A APOB c.2437-501A>T - IntronicSNV - 16/28
1-55525143-C-T PCSK9 c.1504-16C>T - IntronicSNV - 9/11
1-161009523-G-A USF1 c.*187C>T - 3-UTRSNV 11/11 -
2-21264937-T-C APOB c.237+296A>G - IntronicSNV - 3/28
2-21260204-G-A APOB c.538-77C>T - IntronicSNV - 5/28