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Variant : CV162712 (GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1) Homo sapiens

Symbol: CV162712
Name: GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1
Condition: See cases [RCV000141460]
Clinical Significance: pathogenic
Last Evaluated: 02/04/2013
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   LINC00347   LINC00348   LINC00355   LINC00364   LINC00381   LINC00383   LINC00392   LINC00393   LINC00395   LINC00402   LINC00446   LINC00550   LINC00561   LINC01052   LINC01068   LINC01069   LINC01078   LMO7   LMO7-AS1   LMO7DN   LMO7DN-IT1   MIR3665   MIR4704   MIR548X2   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   TBC1D4   UCHL3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_63713365)_(79638415_?)del
NC_000013.10:g.(?_64287498)_(80212550_?)del
NC_000013.9:g.(?_63185499)_(79110551_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381363,713,365 - 79,638,415CLINVAR
GRCh371364,287,498 - 80,212,550CLINVAR
Build 361363,185,499 - 79,110,551CLINVAR
Cytogenetic Map1313q21.31-31.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488985
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.