RGD:11524098 Rat Genome Database

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Variant: RGD:11524098 -  Homo sapiens

RGD ID: 11524098
RS ID: rs879254818
ClinVar ID: CV246025
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 11,222,314
GRCh38 19 11,111,638
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_009060.1:g.27258G>C
NP_001182729.1:p.Val227=
c.1185G>C
LRG_274t1:c.1185G>C
More... 		04/28/2023 synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDLR
Accession:XM_011528010
Location:EXON

Gene Symbol:LDLR
Accession:NM_000527
Location:EXON

Gene Symbol:LDLR
Accession:XM_047438831
Location:EXON

Gene Symbol:LDLR
Accession:NM_001195799
Location:EXON

Gene Symbol:LDLR
Accession:NM_001195800
Location:EXON

Gene Symbol:LDLR
Accession:NM_001195803
Location:EXON

Gene Symbol:LDLR
Accession:NM_001195798
Location:EXON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:19411563   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000237103 CLINVAR
  RCV003741174 CLINVAR
dbSNP (RS) rs879254818 CLINVAR
MedGen C0020445 CLINVAR
  C0745103 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 143890 CLINVAR
  144400 CLINVAR
  606945 CLINVAR
SNOMED CT 397915002 CLINVAR
  398036000 CLINVAR