RGD:11560400 Rat Genome Database

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Variant: RGD:11560400 -  Homo sapiens

RGD ID: 11560400
RS ID: rs1800480
ClinVar ID: CV260652
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOB  LOC106560211  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 21,266,932
GRCh38 2 21,044,060
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_011793.1:g.5014C>G
NC_000002.12:g.21044060G>C
NC_000002.11:g.21266932G>C
NM_000384.3:c.-115C>G
More...
04/24/2018 5 prime utr variant likely benign|conflicting interpretations of pathogenicity|uncertain significance 1-9 / 1 000 000 APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE; APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE; Familial hypercholesterolemia 2; Familial Hypercholesterolemia Type B; Fredrickson type IIa hyperlipoproteinemia; Hyper-beta-lipoproteinemia; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B; HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF; HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL; Hyperlipoproteinemia type 2; Hyperlipoproteinemia Type II; Hyperlipoproteinemia Type IIa; Hyperlipoproteinemia Type IIb; LDL RECEPTOR DISORDER
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:APOB
Accession:NM_000384
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:22095935   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000256258 CLINVAR
  RCV001094609 CLINVAR
dbSNP (RS) rs1800480 CLINVAR
MedGen C0745103 CLINVAR
  C1704417 CLINVAR
NCBI Gene 106560211 CLINVAR
  APOB CLINVAR
OMIM 107730 CLINVAR
  143890 CLINVAR
  144010 CLINVAR
  144400 CLINVAR
SNOMED CT 397915002 CLINVAR