RGD:13521600 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:13521600 -  Homo sapiens

RGD ID: 13521600
RS ID: rs1555179091
ClinVar ID: CV495918
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF5A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 57,976,413
GRCh38 12 57,582,630
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004984.4:c.3020+1G>A
NG_008155.1:g.37567G>A
NC_000012.12:g.57582630G>A
NM_001354705.2:c.2753+1G>A
More... 		05/27/2022 splice donor variant pathogenic|risk factor|uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KIF5A
Accession:NM_001354705
Location:INTRON

Gene Symbol:KIF5A
Accession:NM_004984
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532   PMID:29342275   PMID:29566793   PMID:32815063  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000599583 CLINVAR
  RCV001854130 CLINVAR
dbSNP (RS) rs1555179091 CLINVAR
MedGen C0037772 CLINVAR
  C4693609 CLINVAR
NCBI Gene KIF5A CLINVAR
OMIM 602821 CLINVAR
  617921 CLINVAR
OMIM Allele 602821.0016 CLINVAR