RGD:28909317 Rat Genome Database

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Variant: RGD:28909317 -  Homo sapiens

RGD ID: 28909317
RS ID: rs944580031
ClinVar ID: CV879825
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR-AS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,200,128
GRCh38 19 11,089,452
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_274t1:c.-97G>T
LRG_274:g.5072G>T
NG_009060.1:g.5072G>T
NC_000019.10:g.11089452G>T
More... 		11/20/2018 non-coding transcript variant likely benign|uncertain significance Fredrickson type IIa hyperlipoproteinemia; Hyper-beta-lipoproteinemia; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF; HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL; Hyperlipoproteinemia type 2; Hyperlipoproteinemia Type II; Hyperlipoproteinemia Type IIa; LDL RECEPTOR DISORDER
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDLR-AS1
Accession:NR_163945
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001128656 CLINVAR
  RCV001178894 CLINVAR
dbSNP (RS) rs944580031 CLINVAR
MedGen C0020445 CLINVAR
  C0745103 CLINVAR
NCBI Gene LDLR CLINVAR
  LDLR-AS1 CLINVAR
OMIM 143890 CLINVAR
  144400 CLINVAR
  606945 CLINVAR
SNOMED CT 397915002 CLINVAR
  398036000 CLINVAR