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Variant : CV155273 (GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3) Homo sapiens

Symbol: CV155273
Name: GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3
Condition: See cases [RCV000134877]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANO3   ANO3-AS1   ARL14EP   BBOX1   BBOX1-AS1   BDNF   BDNF-AS   CCDC34   DCDC1   FIBIN   FSHB   KCNA4   KIF18A   LGR4   LGR4-AS1   LIN7C   LINC00678   LINC01616   LINC02546   LINC02699   LINC02742   LINC02755   LINC02758   LINC02859   LOC108178983   LOC108178984   LOC112067717   LOC112067718   LUZP2   METTL15   MIR610   MIR8068   MIR8087   MPPED2   MPPED2-AS1   MUC15   SLC5A12  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_24595399)_(31096539_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381124,595,399 - 31,096,539CLINVAR
GRCh371124,616,945 - 31,118,086CLINVAR
Build 361124,573,521 - 31,074,662CLINVAR
Cytogenetic Map1111p14.3-13CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9482452
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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