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Variant : CV383701 (GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3) Homo sapiens

Symbol: CV383701
Name: GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3
Condition: See cases [RCV000447729]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCG1   ADAMTS1   ADAMTS5   ADARB1   AGPAT3   AIRE   APP   ATP5PF   ATP5PO   B3GALT5   BACE2   BACH1   BRWD1   BTG3   C21orf58   C21orf62   C21orf91   C2CD2   CBR1   CBR3   CBS   CCT8   CFAP298   CFAP410   CHAF1B   CHODL   CLDN14   CLDN17   CLDN8   CLIC6   COL18A1   COL6A1   COL6A2   CRYAA   CRYZL1   CSTB   CXADR   CYYR1   DIP2A   DNAJC28   DNMT3L   DONSON   DOP1B   DSCAM   DSCR4   DSCR8   DYRK1A   ERG   ETS2   EVA1C   FAM207A   FAM3B   FTCD   GABPA   GART   GATD3A   GET1   GRIK1   HLCS   HMGN1   HSF2BP   HSPA13   HUNK   ICOSLG   IFNAR1   IFNAR2   IFNGR2   IGSF5   IL10RB   ITGB2   ITSN1   JAM2   KCNE1   KCNE2   KCNJ15   KCNJ6   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   LINC00114   LINC00163   LINC00315   LINC00334   LIPI   LRRC3   LSS   LTN1   MAP3K7CL   MCM3AP   MIR125B2   MIR155   MIR99A   MIRLET7C   MIS18A   MORC3   MRAP   MRPL39   MRPS6   MX1   MX2   N6AMT1   NCAM2   NDUFV3   NRIP1   OLIG1   OLIG2   PAXBP1   PCBP3   PCNT   PCP4   PDE9A   PDXK   PFKL   PIGP   PKNOX1   PLAC4   POFUT2   PRDM15   PRMT2   PSMG1   PTTG1IP   PWP2   RBM11   RCAN1   RIPK4   RIPPLY3   RRP1   RRP1B   RSPH1   RUNX1   RWDD2B   S100B   SAMSN1   SCAF4   SETD4   SH3BGR   SIK1   SIM2   SLC19A1   SLC37A1   SLC5A3   SMIM11A   SOD1   SON   SPATC1L   SUMO3   SYNJ1   TCP10L   TFF1   TFF2   TFF3   TIAM1   TMEM50B   TMPRSS15   TMPRSS2   TMPRSS3   TRAPPC10   TRPM2   TSPEAR   TTC3   U2AF1   UBASH3A   UBE2G2   UMODL1   URB1   USP16   USP25   VPS26C   WDR4   YBEY   ZBTB21  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372115,285,841 - 48,097,372CLINVAR
Cytogenetic Map2121q11.2-22.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12852442
Created: 2017-04-11
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.