RGD:11524897 Rat Genome Database

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Variant: RGD:11524897 -  Homo sapiens

RGD ID: 11524897
RS ID: rs879254774
ClinVar ID: CV245958
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 11,222,189
GRCh38 19 11,111,513
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_274t1:c.1061-1G>C
NC_000019.10:g.11111513G>C
NC_000019.9:g.11222189G>C
c.1061-1G>C
More... 		12/19/2018 splice acceptor variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity 1-9 / 1 000 000 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195803
Location:INTRON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10487495   PMID:12052488   PMID:16199547   PMID:17539906   PMID:18355452   PMID:20809525   PMID:25741868   PMID:26467025   PMID:28492532   PMID:28645073   PMID:28965616   PMID:29407885  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000237908 CLINVAR
  RCV000786158 CLINVAR
  RCV000791381 CLINVAR
  RCV002411082 CLINVAR
dbSNP (RS) rs879254774 CLINVAR
MedGen C0020445 CLINVAR
  C0745103 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 143890 CLINVAR
  144400 CLINVAR
  606945 CLINVAR
SNOMED CT 397915002 CLINVAR
  398036000 CLINVAR