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Variant : CV73819 (GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3) Homo sapiens

Symbol: CV73819
Name: GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053043]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053043]|See cases [RCV000053043]
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   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   CFAP410   CHAF1B   CHODL   CHODL-AS1   CLDN14   CLDN17   CLDN8   CLIC6   COL18A1   COL18A1-AS1   COL18A1-AS2   COL6A1   COL6A2   CRYAA   CRYZL1   CSTB   CXADR   CYYR1   CYYR1-AS1   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   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   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   PCNT   PCP4   PDE9A   PDXK   PFKL   PICSAR   PIGP   PKNOX1   PLAC4   POFUT2   POTED   PRDM15   PSMG1   PTTG1IP   PWP2   RBM11   RCAN1   RIPK4   RIPPLY3   RNA18S4   RNA18SN2   RNA18SN3   RNA28S4   RNA28SN2   RNA28SN3   RNA45S4   RNA45SN2   RNA45SN3   RNA5-8SN1   RNA5-8SN2   RNA5-8SN3   RRP1   RRP1B   RSPH1   RUNX1   RUNX1-IT1   RWDD2B   S100B   SAMSN1   SAMSN1-AS1   SCAF4   SETD4   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)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_7749532)_(46623792_?)dup
NC_000021.8:g.(?_14629063)_(48043704_?)dup
NC_000021.7:g.(?_13550934)_(46868132_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38217,749,532 - 46,623,792CLINVAR
GRCh372114,629,063 - 48,043,704CLINVAR
Build 362113,550,934 - 46,868,132CLINVAR
Cytogenetic Map2121p11.2-q22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619994
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.