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Variant : CV161983 (GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3) Homo sapiens

Symbol: CV161983
Name: GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3
Condition: See cases [RCV000140829]
Clinical Significance: uncertain significance
Last Evaluated: 01/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD4   ARHGEF40   CHD8   DAD1   HAUS4   HNRNPC   LINC00641   LINC02332   LRP10   METTL3   MIR6717   MMP14   MRPL52   NDRG2   OR10G2   OR10G3   OR4E1   OR4E2   OR5AU1   OR6J1   OXA1L   PRMT5   PRMT5-AS1   RAB2B   RBM23   REM2   RNASE13   RNASE7   RNASE8   RPGRIP1   SALL2   SLC7A7   SNORD8   SNORD9   SUPT16H   TMEM253   TOX4   TPPP2   TRA   TRAC   TRAJ1   TRAJ10   TRAJ11   TRAJ12   TRAJ13   TRAJ14   TRAJ15   TRAJ16   TRAJ17   TRAJ18   TRAJ19   TRAJ2   TRAJ20   TRAJ21   TRAJ22   TRAJ23   TRAJ24   TRAJ25   TRAJ26   TRAJ27   TRAJ28   TRAJ29   TRAJ3   TRAJ30   TRAJ31   TRAJ32   TRAJ33   TRAJ34   TRAJ35   TRAJ36   TRAJ37   TRAJ38   TRAJ39   TRAJ4   TRAJ40   TRAJ41   TRAJ42   TRAJ43   TRAJ44   TRAJ45   TRAJ46   TRAJ47   TRAJ48   TRAJ49   TRAJ5   TRAJ50   TRAJ52   TRAJ53   TRAJ54   TRAJ56   TRAJ57   TRAJ58   TRAJ59   TRAJ6   TRAJ61   TRAJ7   TRAJ8   TRAJ9   TRAV1-1   TRAV1-2   TRAV10   TRAV12-1   TRAV12-2   TRAV12-3   TRAV13-1   TRAV13-2   TRAV14DV4   TRAV16   TRAV17   TRAV18   TRAV19   TRAV2   TRAV20   TRAV21   TRAV22   TRAV23DV6   TRAV24   TRAV25   TRAV26-1   TRAV26-2   TRAV27   TRAV29DV5   TRAV3   TRAV30   TRAV34   TRAV35   TRAV36DV7   TRAV38-1   TRAV38-2DV8   TRAV39   TRAV4   TRAV40   TRAV41   TRAV5   TRAV6   TRAV7   TRAV8-1   TRAV8-2   TRAV8-3   TRAV8-4   TRAV8-6   TRAV8-7   TRAV9-1   TRAV9-2   TRD   TRDC   TRDD1   TRDD2   TRDD3   TRDJ1   TRDJ2   TRDJ3   TRDJ4   TRDV1   TRDV2   TRDV3   TRR-ACG1-3   ZNF219  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_21010790)_(22951814_?)dup
NC_000014.8:g.(?_21478949)_(23421023_?)dup
NC_000014.7:g.(?_20548789)_(22490863_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381421,010,790 - 22,951,814CLINVAR
GRCh371421,478,949 - 23,421,023CLINVAR
Build 361420,548,789 - 22,490,863CLINVAR
Cytogenetic Map1414q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488357
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.