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Variant : CV673736 (GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3) Homo sapiens

Symbol: CV673736
Name: GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3
Condition: not provided [RCV000846852]
Clinical Significance: pathogenic
Last Evaluated: 12/08/2017
Review Status: no assertion criteria provided
Related Genes: AATF   ABHD15   ACACA   ADAP2   ALDOC   ANKRD13B   AP2B1   ARHGAP23   ARL5C   ASIC2   ATAD5   BLMH   C17orf102   C17orf50   C17orf75   C17orf78   C17orf98   CACNB1   CASC3   CCL1   CCL11   CCL13   CCL14   CCL15   CCL16   CCL18   CCL2   CCL23   CCL3   CCL3L1   CCL3L3   CCL4   CCL4L1   CCL4L2   CCL5   CCL7   CCL8   CCR7   CCT6B   CDC6   CDK12   CDK5R1   CISD3   COPRS   CORO6   CPD   CRLF3   CRYBA1   CSF3   CWC25   DDX52   DHRS11   DHRS13   DUSP14   EFCAB5   EPOP   ERAL1   ERBB2   EVI2A   EVI2B   FAM222B   FBXL20   FBXO47   FLOT2   FNDC8   FOXN1   GAS2L2   GGNBP2   GIT1   GJD3   GOSR1   GPR179   GRB7   GSDMA   GSDMB   HEATR9   HNF1B   IFT20   IGFBP4   IKZF3   KIAA0100   KSR1   LASP1   LGALS9   LHX1   LIG3   LRRC37B   LRRC3C   LYRM9   LYZL6   MED1   MED24   MIEN1   MIR144   MIR193A   MIR451A   MLLT6   MMP28   MRM1   MRPL45   MSL1   MTRNR2L1   MYO18A   MYO19   MYO1D   NEK8   NEUROD2   NF1   NLE1   NLK   NOS2   NR1D1   NSRP1   NUFIP2   OMG   ORMDL3   PCGF2   PEX12   PGAP3   PHF12   PIGS   PIGW   PIP4K2B   PIPOX   PLXDC1   PNMT   POLDIP2   PPP1R1B   PROCA1   PSMB3   PSMD11   PSMD3   RAB11FIP4   RAB34   RAD51D   RAPGEFL1   RARA   RASL10B   RDM1   RFFL   RHBDL3   RHOT1   RNF135   RPL19   RPL23   RPL23A   SARM1   SDF2   SEBOX   SEZ6   SLC13A2   SLC35G3   SLC46A1   SLC6A4   SLFN11   SLFN12   SLFN12L   SLFN13   SLFN14   SLFN5   SOCS7   SPACA3   SPAG5   SRCIN1   SSH2   STAC2   STARD3   SUPT6H   SUZ12   SYNRG   TADA2A   TAF15   TAOK1   TBC1D29P   TBC1D3   TBC1D3B   TBC1D3C   TBC1D3F   TBC1D3H   TCAP   TEFM   THRA   TIAF1   TLCD1   TMEM132E   TMEM199   TMEM97   TMEM98   TMIGD1   TNFAIP1   TNS4   TOP2A   TP53I13   TRAF4   UNC119   UNC45B   UTP6   VTN   WIPF2   WSB1   ZNF207   ZNF830   ZNHIT3   ZPBP2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371721,690,653 - 38,772,647CLINVAR
Cytogenetic Map1717p11.2-q21.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14976315
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-06-23
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.