RGD:152130967 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
Advanced Search (OLGA)

Variant: RGD:152130967 -  Homo sapiens

RGD ID: 152130967
RS ID: rs375473654
ClinVar ID: CV1585499
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WFS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 6,288,920
GRCh38 4 6,287,193
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1417t1:c.315+18G>A
NM_001145853.1:c.315+18G>A
NM_006005.3:c.315+18G>A
LRG_1417:g.22344G>A
More... 		09/05/2021 intron variant likely benign Autosomal dominant nonsyndromic deafness 6; Autosomal dominant nonsyndromic hearing loss 6; CATARACT 41, CONGENITAL NUCLEAR TYPE; DEAFNESS, AUTOSOMAL DOMINANT 14; DEAFNESS, AUTOSOMAL DOMINANT 38; DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION; none provided; Type 2 diabetes mellitus; Type II diabetes mellitus; WFS1-Related Low-Frequency Sensory Hearing Loss; Wolfram syndrome 1; Wolfram-like syndrome; Wolfram-like syndrome, autosomal dominant
Disease Annotations     Click to see Annotation Detail View
cataract 41  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:WFS1
Accession:NM_006005
Location:INTRON

Gene Symbol:WFS1
Accession:NM_001145853
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV002155531 CLINVAR
  RCV002494321 CLINVAR
dbSNP (RS) rs375473654 CLINVAR
MedGen C3661900 CLINVAR
  C3805412 CLINVAR
NCBI Gene WFS1 CLINVAR
OMIM 116400 CLINVAR
  125853 CLINVAR
  222300 CLINVAR
  600965 CLINVAR
  606201 CLINVAR
  614296 CLINVAR
SNOMED CT 44054006 CLINVAR