PMID: 23535506

The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica chimica acta; international journal of clinical chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
2013-06-05

29 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11221406-GC-TG LDLR c.1019_1020delinsTG p.Cys340Leu Missense 7/18 -
1-55512260-C-T PCSK9 c.464C>T p.Pro155Leu Missense 3/12 -
19-11227554-C-T LDLR c.1725C>T p.Leu575Leu Synonymous 12/18 -
19-11223981-A-C LDLR c.1214A>C p.Asn405Thr Missense 9/18 -
1-55509624-G-A PCSK9 c.316G>A p.Gly106Arg Missense 2/12 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-11218138-C-A LDLR c.888C>A p.Cys296* Nonsense 6/18 -
19-11240215-G-GG LDLR c.2416dupG p.Val806Glyfs*11 Frameshift 17/18 -
1-55509624-G-C PCSK9 c.316G>C p.Gly106Arg Missense 2/12 -
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -
19-11226817-G-A LDLR c.1634G>A p.Gly545Glu Missense 11/18 -
8-133895188-A-G TG c.1019A>G p.Asp340Gly Missense 8/48 -
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11221457-G-C LDLR c.1060+10G>C - IntronicSNV - 7/17
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
19-11213413-G-T LDLR c.264G>T p.Arg88Ser Missense 3/18 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
19-11213413-G-C LDLR c.264G>C p.Arg88Ser Missense 3/18 -
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
1-55509622-G-A PCSK9 c.314G>A p.Arg105Gln Missense 2/12 -
19-11230838-T-G LDLR c.1916T>G p.Val639Gly Missense 13/18 -
19-11226800-C-T LDLR c.1617C>T p.Pro539Pro Synonymous 11/18 -
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -
19-11223978-C-T LDLR c.1211C>T p.Thr404Ile Missense 9/18 -
19-11221457-G-A LDLR c.1060+10G>A - IntronicSNV - 7/17