PMID: 23064986

Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular genetics
Z Ahmad, B Adams-Huet, C Chen, A Garg
2012-12

13 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 -
1-55509693-G-A PCSK9 c.385G>A p.Asp129Asn Missense 2/12 -
2-21228960-A-G APOB c.10780T>C p.Trp3594Arg Missense 26/29 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
19-11217281-T-A LDLR c.735T>A p.Asp245Glu Missense 5/18 -
19-11210926-T-C LDLR c.95T>C p.Phe32Ser Missense 2/18 -
19-11221421-A-C LDLR c.1034A>C p.Gln345Pro Missense 7/18 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
10-124365464-G-A DMBT1 c.2326G>A p.Val776Met Missense 22/40 -
19-11224219-T-C LDLR c.1367T>C p.Leu456Pro Missense 10/18 -
19-11222207-G-C LDLR c.1078G>C p.Asp360His Missense 8/18 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
19-11217281-T-G LDLR c.735T>G p.Asp245Glu Missense 5/18 -