PMID: 23936638

Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.

Cholesterol
I Kindt, R Huijgen, M Boekel, KJ van der Gaag, JC Defesche, JJ Kastelein, P de Knijff
2013

9 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11218167-C-T LDLR c.917C>T p.Ser306Leu Missense 6/18 -
19-11213464-T-C LDLR c.313+2T>C - IntronicSNV - 3/17
19-11226873-A-C LDLR c.1690A>C p.Asn564His Missense 11/18 -
19-11224210-G-A LDLR c.1359-1G>A - IntronicSNV - 9/17
2-21229161-G-A APOB c.10579C>T p.Arg3527Trp Missense 26/29 -
2-21229160-C-A APOB c.10580G>T p.Arg3527Leu Missense 26/29 -
19-11213463-G-A LDLR c.313+1G>A - IntronicSNV - 3/17
19-11213463-G-C LDLR c.313+1G>C - IntronicSNV - 3/17