RGD:11524184 Rat Genome Database

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Variant: RGD:11524184 -  Homo sapiens

RGD ID: 11524184
ClinVar ID: CV246120
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  MIR6886  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,224,181
GRCh38 19 11,113,505
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.1359-30C>T
NC_000019.10:g.11113505C>T
NC_000019.9:g.11224181C>T
c.1359-30C>T
More... 		06/10/2021 intron variant benign|likely benign 1-9 / 1 000 000 AllHighlyPenetrant; 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:MIR6886
Accession:NR_106946
Location:EXON;NON-CODING

Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195803
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8872473   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000237169 CLINVAR
  RCV001183729 CLINVAR
  RCV001726071 CLINVAR
  RCV001729480 CLINVAR
  RCV002379067 CLINVAR
MedGen C0020445 CLINVAR
  C0745103 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene LDLR CLINVAR
  MIR6886 CLINVAR
OMIM 143890 CLINVAR
  144400 CLINVAR
  606945 CLINVAR
SNOMED CT 397915002 CLINVAR
  398036000 CLINVAR