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Variant : CV155720 (GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1) Homo sapiens

Symbol: CV155720
Name: GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1
Condition: See cases [RCV000135295]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABTB2   ANO3   APIP   ARL14EP   BBOX1   BBOX1-AS1   BDNF   BDNF-AS   C11orf91   CAPRIN1   CAT   CCDC34   CCDC73   CD44   CD59   CSTF3   CSTF3-DT   DCDC1   DEPDC7   DNAJC24   EHF   EIF3M   ELF5   ELP4   FBXO3   FBXO3-DT   FIBIN   FSHB   HIPK3   IMMP1L   KCNA4   KIAA1549L   KIF18A   LGR4   LGR4-AS1   LIN7C   LINC00294   LINC00678   LINC01616   LINC02546   LINC02707   LINC02721   LINC02722   LINC02742   LINC02755   LINC02758   LINC02859   LMO2   METTL15   MIR1343   MIR610   MIR8068   MIR8087   MPPED2   MPPED2-AS1   MUC15   NAT10   PAUPAR   PAX6   PAX6-AS1   PDHX   PRRG4   QSER1   RCN1   SLC1A2   SLC5A12   SNORA88   SNORD164   TCP11L1   WT1   WT1-AS  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_26368962)_(35252976_?)del
NC_000011.9:g.(?_26390509)_(35274523_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381126,368,962 - 35,252,976CLINVAR
GRCh371126,390,509 - 35,274,523CLINVAR
Build 361126,347,085 - 35,231,099CLINVAR
Cytogenetic Map1111p14.2-13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482868
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.