RGD:14732595 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:14732595 -  Homo sapiens

RGD ID: 14732595
RS ID: rs2277826
ClinVar ID: CV670522
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LSS  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 47,639,492
GRCh38 21 46,219,578
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145437.2:c.311-6G>C
NM_001001438.3:c.551-6G>C
NM_001145436.2:c.518-6G>C
NM_002340.6:c.551-6G>C
More... 		12/18/2021 genic upstream transcript variant benign Alopecia-mental retardation syndrome 4; CATARACT 44 AND HYPOTRICHOSIS; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LSS
Accession:NM_001145436
Location:INTRON

Gene Symbol:LSS
Accession:NM_001001438
Location:INTRON

Gene Symbol:LSS
Accession:NM_001145437
Location:INTRON

Gene Symbol:LSS
Accession:NM_002340
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000836680 CLINVAR
  RCV001776056 CLINVAR
  RCV001776057 CLINVAR
dbSNP (RS) rs2277826 CLINVAR
MedGen C3661900 CLINVAR
  C4225300 CLINVAR
  C5394241 CLINVAR
NCBI Gene LSS CLINVAR
OMIM 600909 CLINVAR
  616509 CLINVAR
  618840 CLINVAR