{{Rsnum
|rsid=28942081
|Gene=LDLR
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|Summary=Familial Hypercholesterolemia. A GGC-to-GAC mutation is responsible for this variant (Leitersdorf and Hobbs, 1990).
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=19
|position=11116144
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=LDLR
}}{{omim
|desc=FH SAINT OMER
|id=606945
|rsnum=28942081
|variant=0012
}}
{{ neighbor
| rsid = 28941776
| distance = 9
}}{{ClinVar
|rsid=28942081
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=11226820
|CHROM=19
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=LDLR:3949
|GENE_NAME=LDLR
|GENE_ID=3949
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.11226820G>A
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000003885.1
|CLNDBN=Familial hypercholesterolemia
|CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT
|CLNDSDBID=C0020445:143890:144400:397915002:398036000
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606945.0012
|Disease=Familial hypercholesterolemia
}}