RGD:402478284 Rat Genome Database

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Variant: RGD:402478284 -  Homo sapiens

RGD ID: 402478284
ClinVar ID: CV2973851
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR-AS1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 11,200,074
GRCh38 19 11,089,398
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_274t1:c.-151C>A
NM_000527.4:c.-151C>A
NM_001195798.1:c.-151C>A
NM_001195799.1:c.-151C>A
More... 		07/10/2023 non-coding transcript variant likely benign|uncertain significance
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003741632 CLINVAR
  RCV003901246 CLINVAR
MedGen C0020445 CLINVAR
NCBI Gene LDLR CLINVAR
  LDLR-AS1 CLINVAR
OMIM 606945 CLINVAR
SNOMED CT 398036000 CLINVAR