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Variant : CV155368 (GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1) Homo sapiens

Symbol: CV155368
Name: GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1
Condition: See cases [RCV000134951]
Clinical Significance: pathogenic
Last Evaluated: 01/24/2011
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   LINC00355   LINC00358   LINC00364   LINC00376   LINC00377   LINC00378   LINC00381   LINC00382   LINC00383   LINC00392   LINC00393   LINC00395   LINC00402   LINC00446   LINC00448   LINC00459   LINC00550   LINC00561   LINC00564   LINC01038   LINC01052   LINC01068   LINC01069   LINC01074   LINC01075   LINC01078   LINC01080   LINC01442   LINC02339   LMO7   LMO7-AS1   LMO7DN   LMO7DN-IT1   MIR3169   MIR3665   MIR4704   MIR548X2   MYCBP2   MYCBP2-AS1   MZT1   NDFIP2   NDFIP2-AS1   OBI1   OBI1-AS1   PCDH20   PCDH9   PCDH9-AS2   PCDH9-AS3   PCDH9-AS4   PIBF1   POU4F1   RBM26   RBM26-AS1   SCEL   SCEL-AS1   SLAIN1   SLITRK1   SPRY2   TBC1D4   TDRD3   UCHL3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_60536344)_(84553188_?)del
NC_000013.10:g.(?_61110478)_(85127323_?)del
NC_000013.9:g.(?_60008479)_(84025324_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381360,536,344 - 84,553,188CLINVAR
GRCh371361,110,478 - 85,127,323CLINVAR
Build 361360,008,479 - 84,025,324CLINVAR
Cytogenetic Map1313q21.2-31.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482524
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.