RGD:11525097 Rat Genome Database

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Variant: RGD:11525097 -  Homo sapiens

RGD ID: 11525097
RS ID: rs879255186
ClinVar ID: CV246586
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 11,238,762
GRCh38 19 11,128,086
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.2389+1G>A
LRG_274:g.43706G>A
NG_009060.1:g.43706G>A
NC_000019.10:g.11128086G>A
More... 		05/07/2018 splice donor variant pathogenic|likely pathogenic 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_001195803
Location:INTRON

Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9974426   PMID:10208479   PMID:10735632   PMID:16199547   PMID:20809525   PMID:28492532   PMID:28645073   PMID:32977124  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000238116 CLINVAR
  RCV000657896 CLINVAR
  RCV002518498 CLINVAR
dbSNP (RS) rs879255186 CLINVAR
MedGen C0020445 CLINVAR
  C0745103 CLINVAR
  C3661900 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 143890 CLINVAR
  144400 CLINVAR
  606945 CLINVAR
SNOMED CT 397915002 CLINVAR
  398036000 CLINVAR