RGD:12895325 Rat Genome Database

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Variant: RGD:12895325 -  Homo sapiens

RGD ID: 12895325
RS ID: rs879254996
ClinVar ID: CV410435
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 11,227,534
GRCh38 19 11,116,858
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_274t1:c.1706-1G>C
LRG_274:g.32478G>C
NG_009060.1:g.32478G>C
NC_000019.10:g.11116858G>C
More... 		03/07/2017 splice acceptor variant pathogenic 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:XM_047438831
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195803
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000486061 CLINVAR
  RCV003139679 CLINVAR
dbSNP (RS) rs879254996 CLINVAR
MedGen C0745103 CLINVAR
  C3661900 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 143890 CLINVAR
  144400 CLINVAR
  606945 CLINVAR
SNOMED CT 397915002 CLINVAR