RGD:11608448 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:11608448 -  Homo sapiens

RGD ID: 11608448
RS ID: rs1057407
ClinVar ID: CV309522
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BPNT2  LOC130000433  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 57,906,313
GRCh38 8 56,993,754
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031926.1:g.5118C>T
NC_000008.11:g.56993754G>A
NC_000008.10:g.57906313G>A
NM_017813.5:c.-169C>T
More... 		05/13/2021 5 prime utr variant benign|likely benign GPAPP DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BPNT2
Accession:NM_017813
Location:5UTRS;EXON

Gene Symbol:BPNT2
Accession:XM_047421917
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000355056 CLINVAR
  RCV001672706 CLINVAR
dbSNP (RS) rs1057407 CLINVAR
MedGen C3279757 CLINVAR
  C3661900 CLINVAR
NCBI Gene IMPAD1 CLINVAR
  LOC130000433 CLINVAR
OMIM 614010 CLINVAR
  614078 CLINVAR