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Variant : CV165145 (GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3) Homo sapiens

Symbol: CV165145
Name: GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3
Condition: See cases [RCV000143458]
Clinical Significance: pathogenic
Last Evaluated: 06/11/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCG2   ABRAXAS1   ADAMTS3   AFF1   AFF1-AS1   AFM   AFP   ALB   AMBN   AMTN   ANKRD17   ANTXR2   ANXA3   AREG   ARHGAP24   ART3   ATOH1   BMP2K   BMP3   BMPR1B   BMPR1B-DT   BTC   C4orf36   CABS1   CCDC158   CCNG2   CCNI   CCSER1   CDKL2   CDS1   CFAP299   CNOT6L   COPS4   COQ2   COX18   CSN1S1   CSN2   CSN3   CXCL1   CXCL10   CXCL11   CXCL13   CXCL2   CXCL3   CXCL5   CXCL6   CXCL8   CXCL9   DCK   DMP1   DSPP   ENAM   ENOPH1   EPGN   EREG   FAM13A   FAM13A-AS1   FAM47E   FAM47E-STBD1   FDCSP   FGF5   FRAS1   G3BP2   GC   GK2   GPAT3   GPRIN3   GRID2   GRSF1   HELQ   HERC3   HERC5   HERC6   HNRNPD   HNRNPDL   HPGDS   HPSE   HSD17B11   HSD17B13   HTN1   HTN3   IBSP   JCHAIN   KLHL8   LIN54   LINC00575   LINC00989   LINC01088   LINC01094   LINC02483   LINC02499   LINC02562   LNCPRESS2   MAPK10   MAPK10-AS1   MEPE   MIR4450   MIR4451   MIR4452   MIR548AH   MIR5705   MIR575   MMRN1   MOB1B   MRPL1   MRPS18C   MTHFD2L   MUC7   NAA11   NAAA   NAP1L5   NKX6-1   NPFFR2   NUDT9   NUP54   ODAM   ODAPH   OPRPN   PAQR3   PARM1   PARM1-AS1   PCAT4   PDLIM5   PF4   PF4V1   PIGY   PIGY-DT   PKD2   PLAC8   PPBP   PPEF2   PPM1K   PPM1K-DT   PRDM8   PRKG2   PRR27   PTPN13   PYURF   RASGEF1B   RASSF6   RCHY1   RUFY3   SCARB2   SCD5   SDAD1   SEC31A   SEPTIN11   SHROOM3   SLC10A6   SLC4A4   SMARCAD1   SMR3A   SMR3B   SNCA   SNCA-AS1   SNORD143   SNORD144   SNORD161   SOWAHB   SPARCL1   SPP1   STATH   STBD1   SULT1B1   SULT1E1   THAP6   THAP9   THAP9-AS1   TIGD2   TMEM150C   UGT2A1   UGT2A2   UGT2A3   UGT2B10   UGT2B11   UGT2B28   UGT2B4   UGT2B7   UNC5C   USO1   UTP3   WDFY3   WDFY3-AS2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_68686088)_(95294456_?)dup
NC_000004.11:g.(?_69551806)_(96215607_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38468,686,088 - 95,294,456CLINVAR
GRCh37469,551,806 - 96,215,607CLINVAR
Build 36469,234,401 - 96,434,630CLINVAR
Cytogenetic Map44q13.2-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491056
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.