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Variant : CV164186 (GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1) Homo sapiens

Symbol: CV164186
Name: GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1
Condition: See cases [RCV000142499]
Clinical Significance: pathogenic
Last Evaluated: 08/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABTB2   ANO3   ANO3-AS1   ANO5   ARL14EP   BBOX1   BBOX1-AS1   BDNF   BDNF-AS   C11orf91   CAPRIN1   CAT   CCDC179   CCDC34   CCDC73   CD59   CSTF3   CSTF3-DT   DBX1   DCDC1   DEPDC7   DNAJC24   EIF3M   ELP4   FANCF   FBXO3   FBXO3-DT   FIBIN   FSHB   GAS2   HIPK3   HTATIP2   IMMP1L   KCNA4   KIAA1549L   KIF18A   LGR4   LGR4-AS1   LIN7C   LINC00294   LINC00678   LINC01495   LINC01616   LINC02546   LINC02686   LINC02699   LINC02718   LINC02721   LINC02722   LINC02726   LINC02742   LINC02755   LINC02758   LMO2   LUZP2   METTL15   MIR610   MIR8054   MIR8068   MIR8087   MPPED2   MPPED2-AS1   MUC15   NAT10   NAV2   NELL1   PAUPAR   PAX6   PAX6-AS1   PRMT3   PRRG4   QSER1   RCN1   SLC17A6   SLC5A12   SLC6A5   SNORA88   SVIP   TCP11L1   WT1   WT1-AS  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_20079474)_(34463996_?)del
NC_000011.9:g.(?_20101020)_(34485543_?)del
NC_000011.8:g.(?_20057596)_(34442119_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381120,079,474 - 34,463,996CLINVAR
GRCh371120,101,020 - 34,485,543CLINVAR
Build 361120,057,596 - 34,442,119CLINVAR
Cytogenetic Map1111p15.1-13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490097
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.