PMID: 21418584

Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

BMC medical genetics
A Al-Khateeb, MK Zahri, MS Mohamed, TH Sasongko, S Ibrahim, Z Yusof, BA Zilfalil
2011-03-19

34 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11215997-G-C LDLR c.415G>C p.Asp139His Missense 4/18 -
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
19-11230881-T-A LDLR c.1959T>A p.Val653Val Synonymous 13/18 -
19-11230881-T-G LDLR c.1959T>G p.Val653Val Synonymous 13/18 -
19-11231158-C-G LDLR c.2100C>G p.Asp700Glu Missense 14/18 -
19-11227466-G-T LDLR c.1706-69G>T - IntronicSNV - 11/17
19-11224263-A-G LDLR c.1411A>G p.Arg471Gly Missense 10/18 -
1-241661250-T-C FH c.1411A>G p.Ile471Val Missense 10/10 -
19-11233941-A-C LDLR c.2232A>C p.Arg744Arg Synonymous 15/18 -
19-11233941-A-T LDLR c.2232A>T p.Arg744Arg Synonymous 15/18 -
19-11221457-G-C LDLR c.1060+10G>C - IntronicSNV - 7/17
19-11223961-C-T LDLR c.1194C>T p.Ile398Ile Synonymous 9/18 -
19-11211025-A-T LDLR c.190+4A>T - IntronicSNV - 2/17
19-11211077-G-A LDLR c.190+56G>A - IntronicSNV - 2/17
19-11217309-T-A LDLR c.763T>A p.Cys255Ser Missense 5/18 -
19-11213450-G-A LDLR c.301G>A p.Glu101Lys Missense 3/18 -
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
19-11227000-C-G LDLR c.1705+112C>G - IntronicSNV - 11/17
19-11224181-C-T LDLR c.1359-30C>T - IntronicSNV - 9/17
19-11222356-T-A LDLR c.1186+41T>A - IntronicSNV - 8/17
19-11226822-C-G LDLR c.1639C>G p.Leu547Val Missense 11/18 -
19-11226800-C-T LDLR c.1617C>T p.Pro539Pro Synonymous 11/18 -
19-11218160-G-A LDLR c.910G>A p.Asp304Asn Missense 6/18 -
19-11233939-C-A LDLR c.2230C>A p.Arg744Arg Synonymous 15/18 -
19-11227480-A-C LDLR c.1706-55A>C - IntronicSNV - 11/17
19-11213449-C-T LDLR c.300C>T p.Asp100Asp Synonymous 3/18 -
19-11227005-T-G LDLR c.1705+117T>G - IntronicSNV - 11/17
19-11211079-C-T LDLR c.190+58C>T - IntronicSNV - 2/17
19-11218226-G-A LDLR c.940+36G>A - IntronicSNV - 6/17
19-11216183-G-A LDLR c.601G>A p.Glu201Lys Missense 4/18 -
19-11221454-T-C LDLR c.1060+7T>C - IntronicSNV - 7/17
19-11231054-CTGGTGTGAGAGGACCAC-C LDLR c.1996_2012del17 p.Trp666Profs*45 Frameshift 14/18 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-11226944-C-T LDLR c.1705+56C>T - IntronicSNV - 11/17