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Variant : CV363636 (GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1) Homo sapiens

Symbol: CV363636
Name: GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1
Condition: Aniridia 1 [RCV000420782]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ANO3   ANO5   ARL14EP   BBOX1   BDNF   BDNF-AS   CCDC179   CCDC34   CSRP3   DBX1   DCDC1   DNAJC24   E2F8   ELP4   FANCF   FIBIN   FSHB   GAS2   HTATIP2   IGSF22   IMMP1L   KCNA4   KIF18A   LGR4   LIN7C   LUZP2   METTL15   MIR610   MPPED2   MRGPRX1   MRGPRX2   MUC15   NAV2   NELL1   PAX6   PRMT3   PTPN5   SLC17A6   SLC5A12   SLC6A5   SPTY2D1   SVIP   TMEM86A   TSG101   UEVLD   ZDHHC13  
Variant Type: copy number loss (SO:0001743)
Evidence: research
Human AssemblyChrPosition (strand)Source
GRCh371118,536,224 - 31,923,308CLINVAR
Cytogenetic Map1111p15.1-13CLINVAR
Age Of Onset: childhood
Prevalence: 1-9 / 100 000

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 12834926
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE


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