{{Rsnum
|rsid=193922567
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=LDLR
|position=11113451
|Gene_s=LDLR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922567
|Reversed=0
|FwdREF=T
|FwdALT=A
|REF=T
|ALT=A
|RSPOS=11224127
|CHROM=19
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050068000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.11224127T>A
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=5
|CLNDBN=Familial hypercholesterolemia
|Disease=Familial hypercholesterolemia
|Tags=PM;PMC;OTHERKG;LSD
|CLNACC=RCV000030127.1
|CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT
|CLNDSDBID=C0020445:143890:144400:397915002:398036000
|GENEINFO=LDLR:3949
|GENE_ID=3949
|GENE_NAME=LDLR
}}{{PMID Auto
|PMID=11196104
|Title=Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
}}

{{PMID Auto
|PMID=11462246
|Title=Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
}}