PMID: 17142622

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal of medical genetics
Humphries, S E SE, Whittall, R A RA, Hubbart, C S CS, Maplebeck, S S, Cooper, J A JA, Soutar, A K AK, Naoumova, R R, Thompson, G R GR, Seed, M M, Durrington, P N PN, Miller, J P JP, Betteridge, D J B DJ, Neil, H A W HA, ,
2006-12

43 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11216243-G-A LDLR c.661G>A p.D221N Missense 4/18 -
19-11216262-GAC-G LDLR c.680_681delAC p.D227Gfs*12 Frameshift 4/18 -
1-55518093-G-A PCSK9 c.657+9G>A - IntronicSNV - 4/11
2-21260074-TGCC-T APOB c.589_591delGGC p.G197del InFrameDeletion 6/29 -
1-55505732-A-G PCSK9 c.207+15A>G - IntronicSNV - 1/11
1-55505651-C-T PCSK9 c.141C>T p.S47= Synonymous 1/12 -
19-11222287-C-G LDLR c.1158C>G p.D386E Missense 8/18 -
19-11222287-C-A LDLR c.1158C>A p.D386E Missense 8/18 -
19-11216259-C-CT LDLR c.678dupT p.D227* Nonsense 4/18 -
2-27445506-G-GT CAD c.615_616insT p.D206* Nonsense 5/44 -
2-21265312-G-A APOB c.158C>T p.T53I Missense 3/29 -
19-11221422-G-A LDLR c.1035G>A p.Q345= Synonymous 7/18 -
19-11222249-G-T LDLR c.1120G>T p.G374C Missense 8/18 -
2-21255428-G-A APOB c.1150C>T p.Q384* Nonsense 10/29 -
1-55523042-G-T PCSK9 c.1035G>T p.P345= Synonymous 7/12 -
1-55523042-G-A PCSK9 c.1035G>A p.P345= Synonymous 7/12 -
1-55523042-G-C PCSK9 c.1035G>C p.P345= Synonymous 7/12 -
19-11213352-G-A LDLR c.203G>A p.C68Y Missense 3/18 -
1-55523080-G-A PCSK9 c.1073G>A p.C358Y Missense 7/12 -
19-11216261-GACG-GCGGTATGGACTGCA LDLR c.680_682delinsCGGTATGGACTGCA p.D227Afs*42 Frameshift 4/18 -
2-21250758-T-C APOB c.2009A>G p.E670G Missense 14/29 -
19-11216264-G-T LDLR c.682G>T p.E228* Nonsense 4/18 -
1-55505668-C-G PCSK9 c.158C>G p.A53G Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.A53V Missense 1/12 -
1-55529187-G-A PCSK9 c.2009G>A p.G670E Missense 12/12 -
1-55524237-G-A PCSK9 c.1420G>A p.V474I Missense 9/12 -
19-11231087-T-C LDLR c.2029T>C p.C677R Missense 14/18 -
19-11213463-G-A LDLR c.313+1G>A - IntronicSNV - 3/17
19-11231112-C-T LDLR c.2054C>T p.P685L Missense 14/18 -
19-11218189-C-A LDLR c.939C>A p.C313* Nonsense 6/18 -
19-11221435-C-T LDLR c.1048C>T p.R350* Nonsense 7/18 -
2-21263892-C-T APOB c.301G>A p.E101K Missense 4/29 -
19-11216244-A-G LDLR c.662A>G p.D221G Missense 4/18 -
19-11224288-T-C LDLR c.1436T>C p.L479P Missense 10/18 -
19-11216232-ATGG-A LDLR c.654_656delTGG p.G219del InFrameDeletion 4/18 -
19-11213415-G-A LDLR c.266G>A p.C89Y Missense 3/18 -
19-11224296-G-C LDLR c.1444G>C p.D482H Missense 10/18 -
2-21252820-T-C APOB c.1420A>G p.I474V Missense 11/29 -
1-55518467-A-G PCSK9 c.799+3A>G - IntronicSNV - 5/11
1-55518316-C-T PCSK9 c.658-7C>T - IntronicSNV - 4/11
1-55524197-A-C PCSK9 c.1380A>C p.V460= Synonymous 9/12 -
1-55524197-A-G PCSK9 c.1380A>G p.V460= Synonymous 9/12 -
19-11210968-G-T LDLR c.137G>T p.C46F Missense 2/18 -