RGD:28900129 Rat Genome Database

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Variant: RGD:28900129 -  Homo sapiens

RGD ID: 28900129
RS ID: rs771870462
ClinVar ID: CV879839
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,242,525
GRCh38 19 11,131,849
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.9:g.11242525G>T
NM_000527.4:c.*533G>T
LRG_274t1:c.*533G>T
NM_000527.5:c.*533G>T
More... 		01/13/2018 3 prime utr variant 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
Accession:NM_000527
Location:3UTRS;EXON

Gene Symbol:LDLR
Accession:NM_001195800
Location:3UTRS;EXON

Gene Symbol:LDLR
Accession:NM_001195798
Location:3UTRS;EXON

Gene Symbol:LDLR
Accession:NM_001195803
Location:3UTRS;EXON

Gene Symbol:LDLR
Accession:NM_001195799
Location:3UTRS;EXON

Gene Symbol:LDLR
Accession:XM_011528010
Location:3UTRS;EXON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001124227 CLINVAR
dbSNP (RS) rs771870462 CLINVAR
MedGen C0745103 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 143890 CLINVAR
  144400 CLINVAR
  606945 CLINVAR
SNOMED CT 397915002 CLINVAR