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Variant : CV73816 (GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3) Homo sapiens

Symbol: CV73816
Name: GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3
Condition: See cases [RCV000053039]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AATBC   ABCG1   ADAMTS1   ADAMTS5   ADARB1   AGPAT3   AIRE   AP000251.1   AP000289.1   AP000688.1   AP000688.2   AP001042.3   AP001625.3   APP   ATP5PF   ATP5PO   B3GALT5   B3GALT5-AS1   BACE2   BACH1   BACH1-IT2   BACH1-IT3   BAGE2   BRWD1   BRWD1-AS1   BRWD1-AS2   BTG3   BTG3-AS1   C21orf58   C21orf62   C21orf62-AS1   C21orf91   C21orf91-OT1   C2CD2   CBR1   CBR3   CBR3-AS1   CBS   CCT8   CFAP298   CFAP298-TCP10L   CFAP410   CHAF1B   CHODL   CHODL-AS1   CLDN14   CLDN17   CLDN8   CLIC6   COL18A1   COL18A1-AS1   COL18A1-AS2   COL6A1   COL6A2   CRYAA   CRYZL1   CSTB   CXADR   CYYR1   CYYR1-AS1   D21S2088E   DIP2A   DIP2A-IT1   DNAJC28   DNMT3L   DNMT3L-AS1   DONSON   DOP1B   DSCAM   DSCAM-AS1   DSCAM-IT1   DSCR10   DSCR4   DSCR8   DSCR9   DYRK1A   ERG   ERVH48-1   ETS2   EVA1C   FAM207A   FAM243A   FAM243B   FAM3B   FRGCA   FTCD   FTCD-AS1   GABPA   GART   GATD3A   GET1   GET1-SH3BGR   GRIK1   GRIK1-AS1   GRIK1-AS2   H2BS1   HLCS   HMGN1   HSF2BP   HSPA13   HUNK   ICOSLG   IFNAR1   IFNAR2   IFNGR2   IGSF5   IL10RB   IL10RB-DT   ITGB2   ITGB2-AS1   ITSN1   JAM2   KCNE1   KCNE1B   KCNE2   KCNJ15   KCNJ6   KCNJ6-AS1   KRTAP10-1   KRTAP10-10   KRTAP10-11   KRTAP10-12   KRTAP10-2   KRTAP10-3   KRTAP10-4   KRTAP10-5   KRTAP10-6   KRTAP10-7   KRTAP10-8   KRTAP10-9   KRTAP11-1   KRTAP12-1   KRTAP12-2   KRTAP12-3   KRTAP12-4   KRTAP13-1   KRTAP13-2   KRTAP13-3   KRTAP13-4   KRTAP15-1   KRTAP19-1   KRTAP19-2   KRTAP19-3   KRTAP19-4   KRTAP19-5   KRTAP19-6   KRTAP19-7   KRTAP19-8   KRTAP20-1   KRTAP20-2   KRTAP20-3   KRTAP20-4   KRTAP21-1   KRTAP21-2   KRTAP21-3   KRTAP22-1   KRTAP22-2   KRTAP23-1   KRTAP24-1   KRTAP25-1   KRTAP26-1   KRTAP27-1   KRTAP6-1   KRTAP6-2   KRTAP6-3   KRTAP7-1   KRTAP8-1   LCA5L   LINC00111   LINC00112   LINC00113   LINC00114   LINC00158   LINC00159   LINC00160   LINC00161   LINC00163   LINC00189   LINC00205   LINC00307   LINC00308   LINC00310   LINC00313   LINC00314   LINC00315   LINC00316   LINC00317   LINC00319   LINC00320   LINC00322   LINC00323   LINC00334   LINC00479   LINC00515   LINC00649   LINC00945   LINC01423   LINC01424   LINC01425   LINC01426   LINC01436   LINC01547   LINC01548   LINC01549   LINC01666   LINC01667   LINC01668   LINC01671   LINC01673   LINC01674   LINC01678   LINC01679   LINC01683   LINC01684   LINC01687   LINC01689   LINC01690   LINC01692   LINC01694   LINC01695   LINC01697   LINC01700   LINC02246   LINC02573   LINC02575   LIPI   LOC101928126   LOC101928269   LOC101928796   LOC105377134   LOC105379514   LOC107403075   LOC107403153   LOC107548109   LOC107548111   LOC108251799   LOC108254685   LOC108281139   LOC108281150   LOC108281151   LOC108281168   LOC109029533   LOC109648314   LOC109648316   LOC109648317   LOC110121331   LOC110121341   LOC110121350   LOC110121368   LOC110121385   LOC110121395   LOC110121429   LOC110121448   LOC110121481   LOC110121495   LOC110121500   LOC111099027   LOC111099028   LOC111188161   LOC111556145   LOC112694732   LOC112694733   LOC112694734   LOC112694735   LOC112694736   LOC112694740   LOC112694741   LOC112694744   LOC112694745   LOC112694746   LOC112694747   LOC112694748   LOC112694749   LOC112694750   LOC112694751   LOC112694752   LOC112694753   LOC112694754   LOC114004360   LOC114827853   LOC116309120   LOC116309121   LOC116309122   LOC116309123   LOC116309124   LOC116309125   LOC117134604   LOC117134605   LOC117134606   LOC117134607   LOC117134608   LOC117134611   LOC117135104   LOC117135105   LOC117135106   LOC388813   LOC400867   LRRC3   LRRC3-DT   LSS   LTN1   MAP3K7CL   MCM3AP   MCM3AP-AS1   MIR10396A   MIR10396B   MIR125B2   MIR155   MIR155HG   MIR3118-1   MIR3156-3   MIR3197   MIR3648-1   MIR3648-2   MIR4327   MIR4759   MIR4760   MIR548X   MIR548XHG   MIR5692B   MIR6070   MIR6130   MIR6501   MIR6508   MIR6724-1   MIR6724-2   MIR6724-3   MIR6724-4   MIR6814   MIR6815   MIR802   MIR8069-2   MIR99A   MIR99AHG   MIRLET7C   MIS18A   MORC3   MRAP   MRAP-AS1   MRPL39   MRPS6   MX1   MX2   N6AMT1   NCAM2   NDUFV3   NRIP1   OLIG1   OLIG2   PAXBP1   PAXBP1-AS1   PCBP3   PCBP3-AS1   PCNT   PCP4   PCSEAT   PDE9A   PDE9A-AS1   PDXK   PFKL   PICSAR   PIGP   PKNOX1   PLAC4   POFUT2   POTED   PRDM15   PSMG1   PTTG1IP   PWP2   RBM11   RCAN1   RIPK4   RIPPLY3   RNA18SN1   RNA18SN2   RNA18SN3   RNA28SN1   RNA28SN2   RNA28SN3   RNA45SN1   RNA45SN2   RNA45SN3   RNA5-8SN1   RNA5-8SN2   RNA5-8SN3   RRP1   RRP1B   RSPH1   RUNX1   RUNX1   RUNX1-IT1   RWDD2B   S100B   SAMSN1   SAMSN1-AS1   SCAF4   SETD4   SETD4-AS1   SH3BGR   SIK1   SIM2   SLC19A1   SLC37A1   SLC5A3   SMIM11A   SMIM11B   SMIM34A   SMIM34B   SNORA80A   SNORA91   SNORD159   SNORD74B   SOD1   SON   SPATC1L   SUMO3   SYNJ1   TCP10L   TFF1   TFF2   TFF3   TIAM1   TMEM50B   TMPRSS15   TMPRSS2   TMPRSS3   TPTE   TRAPPC10   TRG-GCC1-5   TRPM2   TRPM2-AS   TSPEAR   TSPEAR-AS1   TSPEAR-AS2   TTC3   TTC3-AS1   U2AF1   UBASH3A   UBE2G2   UMODL1   UMODL1-AS1   URB1   URB1-AS1   USP16   USP25   VPS26C   WDR4   YBEY   ZBTB21   ZNF295-AS1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_7749532)_(46623792_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38217,749,532 - 46,623,792CLINVAR
GRCh372114,524,963 - 48,043,704CLINVAR
Build 362113,446,834 - 46,868,132CLINVAR
Cytogenetic Map2121p11.2-q22.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619991
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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