rs1405273217 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: rs1405273217 -  Homo sapiens

RGD ID: 152118984
RS ID: rs1405273217
ClinVar ID: CV1589072
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC107982234  WT1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 32,456,233
GRCh38 11 32,434,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000378.6:c.661+13G>A
NM_024424.5:c.661+13G>A
NM_024426.6:c.661+13G>A
LRG_525:g.5855G>A
More... 		06/05/2021 intron variant likely benign 11p deletion syndrome; 11p partial monosomy syndrome; Chromosome 11p deletion syndrome; CHROMOSOME 11p13 DELETION SYNDROME; Frasier syndrome; Nephropathy associated with male pseudohermaphroditism and Wilms' tumor; Nephropathy, wilms tumor, and genital anomalies; Pseudohermaphroditism, nephron disorder and Wilms' tumor; WAGR Complex; WAGR syndrome; Wilms tumor 1; WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM; Wilms tumor and pseudohermaphroditism; Wilms tumor, somatic; Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WT1
Accession:NM_001407048
Location:INTRON

Gene Symbol:WT1
Accession:NM_001367854
Location:INTRON

Gene Symbol:WT1
Accession:NM_001407047
Location:INTRON

Gene Symbol:WT1
Accession:NM_001407046
Location:INTRON

Gene Symbol:WT1
Accession:NM_001198552
Location:INTRON

Gene Symbol:WT1
Accession:NM_024426
Location:INTRON

Gene Symbol:WT1
Accession:NM_001429032
Location:INTRON

Gene Symbol:WT1
Accession:NM_001407050
Location:INTRON

Gene Symbol:WT1
Accession:NM_001429031
Location:INTRON

Gene Symbol:WT1
Accession:NM_001407045
Location:INTRON

Gene Symbol:WT1
Accession:NM_001429034
Location:INTRON

Gene Symbol:WT1
Accession:NM_001198551
Location:INTRON

Gene Symbol:WT1
Accession:NM_000378
Location:INTRON

Gene Symbol:WT1
Accession:NM_001407049
Location:INTRON

Gene Symbol:WT1
Accession:NM_024424
Location:INTRON

Gene Symbol:WT1
Accession:NM_001407051
Location:INTRON

Gene Symbol:WT1
Accession:NM_001407044
Location:INTRON

Gene Symbol:WT1
Accession:NM_001429033
Location:INTRON

Gene Symbol:WT1
Accession:NR_176266
Location:INTRON;NON-CODING

Gene Symbol:WT1
Accession:NR_160306
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002216524 CLINVAR
dbSNP (RS) rs1405273217 CLINVAR
MedGen C0950121 CLINVAR
NCBI Gene LOC107982234 CLINVAR
  WT1 CLINVAR
OMIM 136680 CLINVAR
  194070 CLINVAR
  194072 CLINVAR
  194080 CLINVAR
  607102 CLINVAR
SNOMED CT 236385009 CLINVAR