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Variant : CV155266 (GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1) Homo sapiens

Symbol: CV155266
Name: GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1
Condition: See cases [RCV000134874]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACOD1   ATXN8OS   BORA   CLN5   COMMD6   DACH1   DIS3   EDNRB   EDNRB-AS1   FBXL3   KCTD12   KLF12   KLF5   KLHL1   LINC00331   LINC00333   LINC00347   LINC00348   LINC00351   LINC00364   LINC00375   LINC00377   LINC00381   LINC00382   LINC00383   LINC00392   LINC00393   LINC00397   LINC00402   LINC00430   LINC00446   LINC00550   LINC00561   LINC00564   LINC01038   LINC01068   LINC01069   LINC01078   LINC01080   LMO7   LMO7-AS1   LMO7DN   LMO7DN-IT1   MIR3665   MIR4500   MIR4500HG   MYCBP2   MYCBP2-AS1   MZT1   NDFIP2   NDFIP2-AS1   OBI1   OBI1-AS1   PCDH9   PCDH9-AS2   PCDH9-AS3   PCDH9-AS4   PIBF1   POU4F1   RBM26   RBM26-AS1   SCEL   SCEL-AS1   SLAIN1   SLITRK1   SLITRK5   SLITRK6   SNORA107   SPRY2   TBC1D4   UCHL3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_66320998)_(87855429_?)del
NC_000013.10:g.(?_66895130)_(88507684_?)del
NC_000013.9:g.(?_65793131)_(87305685_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381366,320,998 - 87,855,429CLINVAR
GRCh371366,895,130 - 88,507,684CLINVAR
Build 361365,793,131 - 87,305,685CLINVAR
Cytogenetic Map1313q21.32-31.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482449
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.