RGD:11613621 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:11613621 -  Homo sapiens

RGD ID: 11613621
RS ID: rs200186908
ClinVar ID: CV338748
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSEN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 73,686,208
GRCh38 14 73,219,500
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000021.4:c.*211G>A
NM_007318.3:c.*211G>A
NM_000021.3:c.*211G>A
NG_007386.2:g.88030G>A
More... 		06/14/2016 3 prime utr variant uncertain significance Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSEN1
Accession:NM_007318
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_011536974
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_047431601
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_005267866
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_011536972
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_047431602
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_011536973
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:NM_000021
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_005267864
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_047431600
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000270119 CLINVAR
  RCV000362387 CLINVAR
dbSNP (RS) rs200186908 CLINVAR
MedGen C1843013 CLINVAR
  C3160720 CLINVAR
NCBI Gene PSEN1 CLINVAR
OMIM 104311 CLINVAR
  607822 CLINVAR
  613694 CLINVAR