RGD:11524637 Rat Genome Database

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Variant: RGD:11524637 -  Homo sapiens

RGD ID: 11524637
RS ID: rs775924858
ClinVar ID: CV246116
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 11,224,126
GRCh38 19 11,113,450
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_001195798.2:c.1358+1G>A
NM_001195800.2:c.854+1G>A
NM_000527.4:c.1358+1G>A
LRG_274t1:c.1358+1G>A
More... 		03/30/2017 splice donor variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity 1-9 / 1 000 000 Familial hypercholesterolemia - homozygous; 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_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195803
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8314561   PMID:15241806   PMID:15701167   PMID:16199547   PMID:16627557   PMID:18096825   PMID:19208450   PMID:20809525   PMID:22390909   PMID:24632281   PMID:25741868   PMID:26467025  
PMID:27765764   PMID:28492532   PMID:28645073   PMID:33418990  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000237640 CLINVAR
  RCV002479949 CLINVAR
  RCV003581623 CLINVAR
  RCV004017556 CLINVAR
dbSNP (RS) rs775924858 CLINVAR
MedGen C0020445 CLINVAR
  C0342881 CLINVAR
  C0745103 CLINVAR
  C3661900 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 143890 CLINVAR
  144400 CLINVAR
  606945 CLINVAR
SNOMED CT 397915002 CLINVAR
  398036000 CLINVAR