RGD:11631004 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:11631004 -  Homo sapiens

RGD ID: 11631004
RS ID: rs114675472
ClinVar ID: CV350527
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 27,348,258
GRCh38 21 25,975,945
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000021.9:g.25975945A>G
NC_000021.8:g.27348258A>G
NM_001204303.2:c.1074+9T>C
NM_201414.3:c.1074+9T>C
More... 		03/04/2019 intron variant benign|likely benign Alzheimer's disease; none provided; Presenile and senile dementia
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:APP
Accession:NM_001204301
Location:INTRON

Gene Symbol:APP
Accession:NM_001136130
Location:INTRON

Gene Symbol:APP
Accession:NM_201414
Location:INTRON

Gene Symbol:APP
Accession:NM_001136129
Location:INTRON

Gene Symbol:APP
Accession:NM_001385253
Location:INTRON

Gene Symbol:APP
Accession:NM_001204302
Location:INTRON

Gene Symbol:APP
Accession:NM_000484
Location:INTRON

Gene Symbol:APP
Accession:NM_001136016
Location:INTRON

Gene Symbol:APP
Accession:NM_201413
Location:INTRON

Gene Symbol:APP
Accession:NM_001204303
Location:INTRON

Gene Symbol:APP
Accession:NM_001136131
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000365786 CLINVAR
  RCV000710585 CLINVAR
dbSNP (RS) rs114675472 CLINVAR
MedGen C0002395 CLINVAR
  C3661900 CLINVAR
NCBI Gene APP CLINVAR
OMIM 104760 CLINVAR
SNOMED CT 26929004 CLINVAR