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
SE Humphries, RA Whittall, CS Hubbart, S Maplebeck, JA Cooper, AK Soutar, R Naoumova, GR Thompson, M Seed, PN Durrington, JP Miller, DJ Betteridge, HA Neil,
2006-12

41 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-21252820-T-C APOB c.1420A>G p.Ile474Val Missense 11/29 -
19-11224296-G-C LDLR c.1444G>C p.Asp482His Missense 10/18 -
19-11222249-G-T LDLR c.1120G>T p.Gly374Cys Missense 8/18 -
19-11218189-C-A LDLR c.939C>A p.Cys313* Nonsense 6/18 -
19-11216262-ACG-CGGTATGGACTGCA LDLR c.680_682delinsCGGTATGGACTGCA p.Asp227Alafs*42 Frameshift 4/18 -
19-11222287-C-G LDLR c.1158C>G p.Asp386Glu Missense 8/18 -
19-11210968-G-T LDLR c.137G>T p.Cys46Phe Missense 2/18 -
19-11216243-G-A LDLR c.661G>A p.Asp221Asn Missense 4/18 -
2-21260074-TGCC-T APOB c.589_591delGGC p.Gly197delGly InFrameDeletion 6/29 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
19-11221422-G-A LDLR c.1035G>A p.Gln345Gln Synonymous 7/18 -
1-55505732-A-G PCSK9 c.207+15A>G - IntronicSNV - 1/11
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
2-21263892-C-T APOB c.301G>A p.Glu101Lys Missense 4/29 -
19-11216236-GTGG-G LDLR c.654_656delTGG p.Gly219delGly InFrameDeletion 4/18 -
19-11224288-T-C LDLR c.1436T>C p.Leu479Pro Missense 10/18 -
2-21255428-G-A APOB c.1150C>T p.Gln384* Nonsense 10/29 -
19-11231112-C-T LDLR c.2054C>T p.Pro685Leu Missense 14/18 -
19-11222287-C-A LDLR c.1158C>A p.Asp386Glu Missense 8/18 -
1-55518467-A-G PCSK9 c.799+3A>G - IntronicSNV - 5/11
19-11221435-C-T LDLR c.1048C>T p.Arg350* Nonsense 7/18 -
1-55518093-G-A PCSK9 c.657+9G>A - IntronicSNV - 4/11
19-11216264-G-T LDLR c.682G>T p.Glu228* Nonsense 4/18 -
2-21250758-T-C APOB c.2009A>G p.Glu670Gly Missense 14/29 -
1-55518316-C-T PCSK9 c.658-7C>T - IntronicSNV - 4/11
19-11213415-G-A LDLR c.266G>A p.Cys89Tyr Missense 3/18 -
19-11213352-G-A LDLR c.203G>A p.Cys68Tyr Missense 3/18 -
1-55523080-G-A PCSK9 c.1073G>A p.Cys358Tyr Missense 7/12 -
19-11216244-A-G LDLR c.662A>G p.Asp221Gly Missense 4/18 -
19-11213463-G-A LDLR c.313+1G>A - IntronicSNV - 3/17
1-55505651-C-T PCSK9 c.141C>T p.Ser47Ser Synonymous 1/12 -
19-11231087-T-C LDLR c.2029T>C p.Cys677Arg Missense 14/18 -
19-11216262-GAC-G LDLR c.680_681delAC p.Asp227Glyfs*12 Frameshift 4/18 -
1-55524197-A-G PCSK9 c.1380A>G p.Val460Val Synonymous 9/12 -
1-55524197-A-C PCSK9 c.1380A>C p.Val460Val Synonymous 9/12 -
19-11216260-T-TT LDLR c.678dupT p.Asp227*fs*1 Nonsense 4/18 -
1-55523042-G-T PCSK9 c.1035G>T p.Pro345Pro Synonymous 7/12 -
1-55523042-G-C PCSK9 c.1035G>C p.Pro345Pro Synonymous 7/12 -
1-55523042-G-A PCSK9 c.1035G>A p.Pro345Pro Synonymous 7/12 -
2-21265312-G-A APOB c.158C>T p.Thr53Ile Missense 3/29 -