PMID: 26036859

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European journal of human genetics : EJHG
I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert
2016-02

32 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11217352-G-A LDLR c.806G>A p.Gly269Asp Missense 5/18 -
19-11217344-T-A LDLR c.798T>A p.Asp266Glu Missense 5/18 -
19-11218076-T-C LDLR c.826T>C p.Cys276Arg Missense 6/18 -
19-11224296-G-A LDLR c.1444G>A p.Asp482Asn Missense 10/18 -
2-21260868-G-A APOB c.499C>T p.Pro167Ser Missense 5/29 -
19-11217354-T-A LDLR c.808T>A p.Cys270Ser Missense 5/18 -
19-11218078-C-A LDLR c.828C>A p.Cys276* Nonsense 6/18 -
1-55512245-TTT-T PCSK9 c.449_450delTT p.Phe150Cysfs*20 Frameshift 3/12 -
19-11217357-G-A LDLR c.811G>A p.Val271Ile Missense 5/18 -
1-241669379-G-T FH c.828C>A p.Gly276Gly Synonymous 6/10 -
1-55518037-G-A PCSK9 c.610G>A p.Asp204Asn Missense 4/12 -
2-21232606-G-T APOB c.7134C>A p.Ser2378Arg Missense 26/29 -
2-21233102-ATCA-A APOB c.6639_6641delTGA p.Asp2213delAsp InFrameDeletion 26/29 -
19-11224052-G-A LDLR c.1285G>A p.Val429Met Missense 9/18 -
2-21246416-A-G APOB c.2585T>C p.Val862Ala Missense 17/29 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
4-68436820-A-G STAP1 c.139A>G p.Thr47Ala Missense 2/9 -
19-11217355-G-C LDLR c.809G>C p.Cys270Ser Missense 5/18 -
19-11224210-G-A LDLR c.1359-1G>A - IntronicSNV - 9/17
19-11213464-T-C LDLR c.313+2T>C - IntronicSNV - 3/17
19-11227604-G-A LDLR c.1775G>A p.Gly592Glu Missense 12/18 -
2-21234086-T-C APOB c.5654A>G p.Tyr1885Cys Missense 26/29 -
19-11217355-G-A LDLR c.809G>A p.Cys270Tyr Missense 5/18 -
2-21229703-C-A APOB c.10037G>T p.Ser3346Ile Missense 26/29 -
19-11217303-C-T LDLR c.757C>T p.Arg253Trp Missense 5/18 -
19-11210962-G-A LDLR c.131G>A p.Trp44* Nonsense 2/18 -
2-21234674-C-T APOB c.5066G>A p.Arg1689His Missense 26/29 -
19-11217361-A-C LDLR c.815A>C p.Asn272Thr Missense 5/18 -
19-11233886-C-T LDLR c.2177C>T p.Thr726Ile Missense 15/18 -
19-11233940-G-A LDLR c.2231G>A p.Arg744Gln Missense 15/18 -
19-11217354-T-C LDLR c.808T>C p.Cys270Arg Missense 5/18 -
2-21232044-C-T APOB c.7696G>A p.Glu2566Lys Missense 26/29 -