PMID: 26327206

A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

PLoS genetics
S Gretarsdottir, H Helgason, A Helgadottir, A Sigurdsson, G Thorleifsson, A Magnusdottir, A Oddsson, V Steinthorsdottir, T Rafnar, J de Graaf, MS Daneshpour, M Hedayati, F Azizi, N Grarup, T Jørgensen, H Vestergaard, T Hansen, G Eyjolfsson, O Sigurdardottir, I Olafsson, LA Kiemeney, O Pedersen, P Sulem, G Thorgeirsson, DF Gudbjartsson, H Holm, U Thorsteinsdottir, K Stefansson
2015-09

26 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11219281-T-C LDLR c.940+1091T>C - IntronicSNV - 6/17
19-11223989-G-A LDLR c.1222G>A p.Glu408Lys Missense 9/18 -
19-11215945-C-T LDLR c.363C>T p.Cys121Cys Synonymous 4/18 -
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
19-11206040-C-T LDLR c.68-4859C>T - IntronicSNV - 1/17
19-11213347-C-T LDLR c.198C>T p.Val66Val Synonymous 3/18 -
19-11231203-G-A LDLR c.2140+5G>A - IntronicSNV - 14/17
19-11213353-C-T LDLR c.204C>T p.Cys68Cys Synonymous 3/18 -
19-11233886-C-T LDLR c.2177C>T p.Thr726Ile Missense 15/18 -
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
19-11231068-C-T LDLR c.2010C>T p.Thr670Thr Synonymous 14/18 -
19-11098309-A-T SMARCA4 c.860-33A>T - IntronicSNV - 5/34
19-11098309-A-G SMARCA4 c.860-33A>G - IntronicSNV - 5/34
19-11217359-T-C LDLR c.813T>C p.Val271Val Synonymous 5/18 -
19-11227554-C-T LDLR c.1725C>T p.Leu575Leu Synonymous 12/18 -
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
19-11216278-T-C LDLR c.694+2T>C - IntronicSNV - 4/17
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-11224339-G-C LDLR c.1487G>C p.Gly496Ala Missense 10/18 -
19-11147526-T-C SMARCA4 c.4170+1718T>C - IntronicSNV - 29/34
19-11224036-C-T LDLR c.1269C>T p.Ile423Ile Synonymous 9/18 -
19-11238760-C-T LDLR c.2388C>T p.Ile796Ile Synonymous 16/18 -
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -
19-11216043-A-G LDLR c.461A>G p.Gln154Arg Missense 4/18 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
19-11257018-T-C SPC24 c.*841A>G - IntergenicSNV 5/5 -