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Variant : CV71841 (GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3) Homo sapiens

Symbol: CV71841
Name: GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3
Condition: Cleft palate, isolated [RCV000050914]|See cases [RCV000050914]
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   ACIN1   AJUBA   ANG   APEX1   ARHGEF40   BCL2L2   BCL2L2-PABPN1   C14orf119   C14orf93   CCNB1IP1   CDH24   CEBPE   CHD8   CMTM5   DAD1   EDDM3A   EDDM3B   EFS   HAUS4   HNRNPC   HOMEZ   IL25   KLHL33   LINC00641   LINC02332   LMLN2   LRP10   METTL17   METTL3   MHRT   MIR208A   MIR208B   MIR4707   MIR6717   MMP14   MRPL52   MYH6   MYH7   NDRG2   OR10G2   OR10G3   OR11G2   OR11H4   OR11H6   OR11H7   OR4E1   OR4E2   OR5AU1   OR6J1   OR6S1   OSGEP   OXA1L   PABPN1   PARP2   PIP4P1   PNP   PPP1R3E   PRMT5   PRMT5-AS1   PSMB11   PSMB5   RAB2B   RBM23   REM2   RNASE1   RNASE10   RNASE11   RNASE12   RNASE13   RNASE2   RNASE3   RNASE4   RNASE6   RNASE7   RNASE8   RNASE9   RNF212B   RPGRIP1   RPPH1   SALL2   SLC22A17   SLC39A2   SLC7A7   SLC7A8   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   TRR-ACG1-3   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 gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_20151149)_(23442195_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381420,151,149 - 23,442,195CLINVAR
GRCh371420,619,308 - 23,911,404CLINVAR
Build 361419,689,148 - 22,981,244CLINVAR
Cytogenetic Map1414q11.2CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8617975
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.