RGD:28872148 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:28872148 -  Homo sapiens

RGD ID: 28872148
RS ID: rs1795315989
ClinVar ID: CV897359
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LEP  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 127,894,748
GRCh38 7 128,254,695
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007450.1:g.18418G>T
NC_000007.14:g.128254695G>T
NM_000230.2:c.436G>T
NP_000221.1:p.Ala146Ser
More... 		04/27/2017 missense variant uncertain significance Leptin deficiency or dysfunction
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LEP
Accession:NM_000230
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHWGTLCGFLWLWPYLFYVQAVPIQKVQDDTKTLIKTIVTRINDISHTQSVSSKQKVTGLDFIPGLHPILTLSKMDQTLA
VYQQILTSMPSRNVIQISNDLENLRDLLHVLAFSKSCHLPWASGLETLDSLGGVLEASGYSTEVVSLSRLQGSLQDMLWQ
LDLSPGC*

Gene Symbol:LEP
Accession:XM_005250340
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHWGTLCGFLWLWPYLFYVQAVPIQKVQDDTKTLIKTIVTRINDISHTSVSSKQKVTGLDFIPGLHPILTLSKMDQTLAV
YQQILTSMPSRNVIQISNDLENLRDLLHVLAFSKSCHLPWASGLETLDSLGGVLEASGYSTEVVSLSRLQGSLQDMLWQL
DLSPGC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001164272 CLINVAR
dbSNP (RS) rs1795315989 CLINVAR
MedGen C3554224 CLINVAR
NCBI Gene LEP CLINVAR
OMIM 164160 CLINVAR
  614962 CLINVAR