RGD:405064396 Rat Genome Database

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Variant: RGD:405064396 -  Homo sapiens

RGD ID: 405064396
ClinVar ID: CV2988712
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  LDLR-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 11,200,311
GRCh38 19 11,089,635
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000527.5:c.67+20C>G
NM_001195798.2:c.67+20C>G
NM_001195799.2:c.67+20C>G
NM_001195800.2:c.67+20C>G
More... 		12/21/2022 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195803
Location:INTRON

Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003741858 CLINVAR
MedGen C0020445 CLINVAR
NCBI Gene LDLR CLINVAR
  LDLR-AS1 CLINVAR
OMIM 606945 CLINVAR
SNOMED CT 398036000 CLINVAR