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Variant : CV363638 (GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1) Homo sapiens

Symbol: CV363638
Name: GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1
Condition: Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome [RCV000435400]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ANO3   ANO5   ARL14EP   BBOX1   BDNF   BDNF-AS   CCDC179   CCDC34   CCDC73   CSTF3   DCDC1   DEPDC7   DNAJC24   EIF3M   ELP4   FANCF   FIBIN   FSHB   GAS2   IMMP1L   KCNA4   KIF18A   LGR4   LIN7C   LINC00294   LUZP2   METTL15   MIR610   MPPED2   MUC15   NELL1   PAX6   PRRG4   QSER1   RCN1   SLC17A6   SLC5A12   SVIP   TCP11L1   WT1   WT1-AS  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh371121,586,131 - 33,168,232CLINVAR
Cytogenetic Map1111p15.1-13CLINVAR
Trait Synonyms: CHROMOSOME 11p13-p12 DELETION SYNDROME; WAGR SYNDROME WITH OBESITY; WAGRO SYNDROME
Age Of Onset: neonatal
Prevalence: 1-9 / 1 000 000



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12842982
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.