PMID: 30949068

Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.

Frontiers in physiology
P Chen, X Chen, S Zhang
2019

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55521821-CG-GA PCSK9 c.955_956delCGinsGA p.Arg319Glu Missense 6/12 -
19-11224300-G-A LDLR c.1448G>A p.Trp483* Nonsense 10/18 -
1-55521824-G-A PCSK9 c.958G>A p.Asp320Asn Missense 6/12 -
1-55521784-G-C PCSK9 c.918G>C p.Arg306Ser Missense 6/12 -
19-11224008-T-G LDLR c.1241T>G p.Leu414Arg Missense 9/18 -
1-55521784-G-T PCSK9 c.918G>T p.Arg306Ser Missense 6/12 -
1-55521800-GT-AG PCSK9 c.934_935delGTinsAG p.Val312Ser Missense 6/12 -
2-21229033-G-A APOB c.10707C>T p.Asn3569Asn Synonymous 26/29 -
19-11227645-G-A LDLR c.1816G>A p.Ala606Thr Missense 12/18 -
19-11230801-G-A LDLR c.1879G>A p.Ala627Thr Missense 13/18 -
19-11227576-C-T LDLR c.1747C>T p.His583Tyr Missense 12/18 -
1-55521800-G-T PCSK9 c.934G>T p.Val312Phe Missense 6/12 -
19-11227630-G-T LDLR c.1801G>T p.Asp601Tyr Missense 12/18 -
19-11221373-G-A LDLR c.986G>A p.Cys329Tyr Missense 7/18 -