RGD:40814190 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:40814190 -  Homo sapiens

RGD ID: 40814190
RS ID: rs1460188868
ClinVar ID: CV967020
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 119,582,988
GRCh38 X 120,449,133
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.120449133A>G
LRG_749t2:c.398-5T>C
LRG_749t3:c.398-5T>C
NM_001122606.1:c.398-5T>C
More... 		04/20/2020 intron variant likely benign|uncertain significance Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LAMP2
Accession:NM_001122606
Location:INTRON

Gene Symbol:LAMP2
Accession:NM_002294
Location:INTRON

Gene Symbol:LAMP2
Accession:NM_013995
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001257685 CLINVAR
  RCV001724279 CLINVAR
dbSNP (RS) rs1460188868 CLINVAR
MedGen C3714756 CLINVAR
  CN517202 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 309060 CLINVAR
SNOMED CT 228156007 CLINVAR