RGD:28902726 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:28902726 -  Homo sapiens

RGD ID: 28902726
RS ID: rs149967447
ClinVar ID: CV886382
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VAPB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 57,023,259
GRCh38 20 58,448,203
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_656t1:c.*3968C>T
NM_004738.5:c.*3968C>T
NM_001195677.2:c.*4038C>T
LRG_656:g.64015C>T
More... 		01/13/2018 3 prime utr variant benign Adult proximal spinal muscular atrophy, autosomal dominant; FINKEL LATE-ADULT TYPE SMA; Spinal muscular atrophy, late-onset, finkel type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VAPB
Accession:NM_001195677
Location:3UTRS;EXON

Gene Symbol:VAPB
Accession:NM_004738
Location:3UTRS;EXON

Gene Symbol:VAPB
Accession:NR_036633
Location:EXON;NON-CODING

Gene Symbol:VAPB
Accession:XR_001754433
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001143703 CLINVAR
  RCV001143704 CLINVAR
dbSNP (RS) rs149967447 CLINVAR
MedGen C1837728 CLINVAR
  C1854058 CLINVAR
NCBI Gene VAPB CLINVAR
OMIM 182980 CLINVAR
  605704 CLINVAR
  608627 CLINVAR