RGD:11580896 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:11580896 -  Homo sapiens

RGD ID: 11580896
RS ID: rs376653409
ClinVar ID: CV280902
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCSK9  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 55,509,711
GRCh38 1 55,044,038
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_174936.3:c.399+4A>G
LRG_275t1:c.399+4A>G
LRG_275:g.9492A>G
NG_009061.1:g.9492A>G
More... 		08/07/2023 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance 1-9 / 1 000 000 AllHighlyPenetrant; Familial hypercholesterolemia 3; Familial Hypercholesterolemia, Autosomal Dominant, 3; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PCSK9
Accession:NM_001407246
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407247
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_174936
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407245
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407240
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407242
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407241
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407243
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407244
Location:INTRON

Gene Symbol:PCSK9
Accession:NR_176318
Location:INTRON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_176321
Location:INTRON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_176323
Location:INTRON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_176324
Location:INTRON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_110451
Location:INTRON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_176319
Location:INTRON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_176320
Location:INTRON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_176322
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000347560 CLINVAR
  RCV000644536 CLINVAR
  RCV001180028 CLINVAR
  RCV001284674 CLINVAR
  RCV001753756 CLINVAR
  RCV002374504 CLINVAR
dbSNP (RS) rs376653409 CLINVAR
MedGen C0020445 CLINVAR
  C0020597 CLINVAR
  C1863551 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene PCSK9 CLINVAR
OMIM 603776 CLINVAR
  607786 CLINVAR
SNOMED CT 398036000 CLINVAR