PMID: 25606447

Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta gene
T Cymbron, P Mendes, A Ramos, M Raposo, N Kazachkova, AM Medeiros, J Bruges-Armas, M Bourbon, M Lima
2014-12

32 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11221454-T-C LDLR c.1060+7T>C - IntronicSNV - 7/17
19-11210921-C-T LDLR c.90C>T p.Asn30Asn Synonymous 2/18 -
19-11217352-G-A LDLR c.806G>A p.Gly269Asp Missense 5/18 -
19-11227554-C-T LDLR c.1725C>T p.Leu575Leu Synonymous 12/18 -
19-11227480-A-C LDLR c.1706-55A>C - IntronicSNV - 11/17
19-11233941-A-C LDLR c.2232A>C p.Arg744Arg Synonymous 15/18 -
19-11241877-G-A LDLR c.2548-80G>A - IntronicSNV - 17/17
19-11238807-C-T LDLR c.2389+46C>T - IntronicSNV - 16/17
19-11230881-T-G LDLR c.1959T>G p.Val653Val Synonymous 13/18 -
19-11221457-G-C LDLR c.1060+10G>C - IntronicSNV - 7/17
19-11233941-A-T LDLR c.2232A>T p.Arg744Arg Synonymous 15/18 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-11238807-C-G LDLR c.2389+46C>G - IntronicSNV - 16/17
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 -
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -
19-11227466-G-A LDLR c.1706-69G>A - IntronicSNV - 11/17
19-11227466-G-T LDLR c.1706-69G>T - IntronicSNV - 11/17
19-11227554-C-A LDLR c.1725C>A p.Leu575Leu Synonymous 12/18 -
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
19-11227554-C-G LDLR c.1725C>G p.Leu575Leu Synonymous 12/18 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
19-11226800-C-T LDLR c.1617C>T p.Pro539Pro Synonymous 11/18 -
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
19-11224263-A-C LDLR c.1411A>C p.Arg471Arg Synonymous 10/18 -
19-11224181-C-T LDLR c.1359-30C>T - IntronicSNV - 9/17
19-11211016-C-T LDLR c.185C>T p.Thr62Met Missense 2/18 -
19-11224181-C-A LDLR c.1359-30C>A - IntronicSNV - 9/17
19-11233939-C-A LDLR c.2230C>A p.Arg744Arg Synonymous 15/18 -
19-11241915-A-G LDLR c.2548-42A>G - IntronicSNV - 17/17
19-11221457-G-A LDLR c.1060+10G>A - IntronicSNV - 7/17
19-11242044-G-A LDLR c.*52G>A - 3-UTRSNV 18/18 -