RGD:34892918 Rat Genome Database

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Variant: RGD:34892918 -  Homo sapiens

RGD ID: 34892918
RS ID: rs763282380
ClinVar ID: CV914664
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  LDLR-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 11,200,202
GRCh38 19 11,089,526
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001195800.2:c.-23A>G
NC_000019.10:g.11089526A>G
NC_000019.9:g.11200202A>G
NR_163945.1:n.134T>C
More... 		01/16/2020 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDLR
Accession:NM_001195799
Location:5UTRS;EXON

Gene Symbol:LDLR
Accession:NM_000527
Location:5UTRS;EXON

Gene Symbol:LDLR
Accession:XM_047438831
Location:5UTRS;EXON

Gene Symbol:LDLR
Accession:XM_011528010
Location:5UTRS;EXON

Gene Symbol:LDLR
Accession:NM_001195800
Location:5UTRS;EXON

Gene Symbol:LDLR
Accession:NM_001195798
Location:5UTRS;EXON

Gene Symbol:LDLR
Accession:NM_001195803
Location:5UTRS;EXON

Gene Symbol:LDLR-AS1
Accession:NR_163945
Location:EXON;NON-CODING

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001183432 CLINVAR
dbSNP (RS) rs763282380 CLINVAR
MedGen C0020445 CLINVAR
NCBI Gene LDLR CLINVAR
  LDLR-AS1 CLINVAR
OMIM 606945 CLINVAR
SNOMED CT 398036000 CLINVAR