RGD:11650504 Rat Genome Database

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Variant: RGD:11650504 -  Homo sapiens

RGD ID: 11650504
RS ID: rs886048234
ClinVar ID: CV327353
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC107982234  WT1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 32,456,937
GRCh38 11 32,435,391
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_525:g.5151G>T
NG_009272.1:g.5151G>T
NC_000011.10:g.32435391C>A
NC_000011.9:g.32456937C>A
More... 		06/14/2016 5 prime utr variant uncertain significance all ages|infancy|neonatal 1-9 / 1 000 000|<1 / 1 000 000 11p deletion syndrome; Chromosome 11p deletion syndrome; CHROMOSOME 11p13 DELETION SYNDROME; Familial mesangial sclerosis; Meacham Winn Culler syndrome; Nephrotic syndrome, early onset with diffuse mesangial sclerosis; WAGR Complex; WAGR syndrome; Wilms tumor; Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome; Wilms' tumor
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Nephroblastoma  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:WT1
Accession:NM_024426
Location:5UTRS;EXON

Gene Symbol:WT1
Accession:NM_001407045
Location:5UTRS;EXON

Gene Symbol:WT1
Accession:NM_001407046
Location:5UTRS;EXON

Gene Symbol:WT1
Accession:NM_000378
Location:5UTRS;EXON

Gene Symbol:WT1
Accession:NM_001407044
Location:5UTRS;EXON

Gene Symbol:WT1
Accession:NM_001407050
Location:5UTRS;EXON

Gene Symbol:WT1
Accession:NM_001407049
Location:5UTRS;EXON

Gene Symbol:WT1
Accession:NM_001407047
Location:5UTRS;EXON

Gene Symbol:WT1
Accession:NM_001407048
Location:5UTRS;EXON

Gene Symbol:WT1
Accession:NM_024424
Location:5UTRS;EXON

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

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

Gene Symbol:WT1
Accession:NM_001198552
Location:INTRON

Gene Symbol:WT1
Accession:NM_001407051
Location:INTRON

Gene Symbol:WT1
Accession:NM_001367854
Location:INTRON

Gene Symbol:WT1
Accession:NM_001198551
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000293409 CLINVAR
  RCV000328507 CLINVAR
  RCV000329776 CLINVAR
  RCV000382999 CLINVAR
dbSNP (RS) rs886048234 CLINVAR
MedGen C0027708 CLINVAR
  C0206115 CLINVAR
  C1837026 CLINVAR
  C3151568 CLINVAR
NCBI Gene 107982234 CLINVAR
  WT1 CLINVAR
OMIM 194072 CLINVAR
  256370 CLINVAR
  607102 CLINVAR
  608978 CLINVAR
SNOMED CT 236383002 CLINVAR
  25081006 CLINVAR
  4135001 CLINVAR