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Variant : CV72338 (GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1) Homo sapiens

Symbol: CV72338
Name: GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1
Condition: Global developmental delay [RCV000051483]|See cases [RCV000051483]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD4   ANG   APEX1   ARHGEF40   CCNB1IP1   CHD8   DAD1   EDDM3A   EDDM3B   HNRNPC   KLHL33   LINC00641   LINC02332   METTL17   METTL3   MIR6717   NDRG2   OR10G2   OR10G3   OR11G2   OR11H4   OR11H6   OR11H7   OR4E1   OR4E2   OR4K1   OR4K13   OR4K14   OR4K15   OR4K17   OR4K2   OR4K3   OR4K5   OR4L1   OR4M1   OR4N2   OR4N5   OR4Q2   OR5AU1   OR6J1   OR6S1   OSGEP   PARP2   PIP4P1   PNP   RAB2B   RNASE1   RNASE10   RNASE11   RNASE12   RNASE13   RNASE2   RNASE3   RNASE4   RNASE6   RNASE7   RNASE8   RNASE9   RPGRIP1   RPPH1   SALL2   SLC39A2   SNORA79B   SNORD126   SNORD8   SNORD9   SUPT16H   TEP1   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   TRL-AAG2-3   TRL-TAG2-1   TRP-AGG2-5   TRP-AGG2-6   TRP-TGG1-1   TRP-TGG3-2   TRT-TGT3-1   TRT-TGT4-1   TRT-TGT5-1   TRY-GTA4-1   TRY-GTA5-3   TRY-GTA5-4   TRY-GTA5-5   TRY-GTA7-1   TTC5   ZNF219  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_19755249)_(22741281_?)del
NC_000014.8:g.(?_20223408)_(23210490_?)del
NC_000014.7:g.(?_19293248)_(22280330_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381419,755,249 - 22,741,281CLINVAR
GRCh371420,223,408 - 23,210,490CLINVAR
Build 361419,293,248 - 22,280,330CLINVAR
Cytogenetic Map1414q11.2CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618498
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-08
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.