rs760370189 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 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
Advanced Search (OLGA)

Variant: rs760370189 -  Homo sapiens

RGD ID: 11633295
RS ID: rs760370189
ClinVar ID: CV272274
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: NAGLU  
Reference Nucleotide: -
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 40,690,468
GRCh38 17 42,538,450
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011552.1:g.7523dup
NC_000017.11:g.42538455dup
NC_000017.10:g.40690473dup
NP_000254.2:p.Ser217fs
More... 		09/12/2023 frameshift variant pathogenic Charcot-Marie-Tooth disease axonal type 2V; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V; MPS 3B; MPS III B; Mucopoly-saccharidosis type 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B); MUCOPOLYSACCHARIDOSIS, TYPE IIIB; N-acetyl-alpha-d-glucosaminidase deficiency; NAGLU DEFICIENCY; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Sanfilippo syndrome B
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:9832037   PMID:10094189   PMID:16151907   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000327069 CLINVAR
  RCV002521987 CLINVAR
dbSNP (RS) rs760370189 CLINVAR
MedGen C0086648 CLINVAR
  C3661900 CLINVAR
NCBI Gene NAGLU CLINVAR
OMIM 252920 CLINVAR
  609701 CLINVAR
  616491 CLINVAR
SNOMED CT 59990008 CLINVAR