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Variant : CV599984 (GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3) Homo sapiens

Symbol: CV599984
Name: GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3
Condition: not provided [RCV000745284]
Clinical Significance: pathogenic
Last Evaluated: 10/30/2014
Review Status: no assertion criteria provided
Related Genes: AC034199.1   ADAM19   ADAMTS2   ADRA1B   ARL10   ATP10B   ATP6V0E1   B4GALT7   BNIP1   BOD1   BTNL3   BTNL8   BTNL9   C1QTNF2   C5orf47   C5orf52   C5orf58   C5orf60   CANX   CBY3   CCNG1   CCNJL   CDHR2   CLINT1   CLK4   CLTB   CNOT6   COL23A1   CPEB4   CPLX2   CREBRF   CYFIP2   DBN1   DDX41   DOCK2   DOK3   DRD1   DUSP1   EBF1   EFCAB9   EIF4E1B   ERGIC1   F12   FABP6   FAF2   FAM153A   FAM153B   FAM193B   FAM71B   FBXW11   FGF18   FGFR4   FLT4   FNDC9   FOXI1   GABRA1   GABRA6   GABRB2   GABRG2   GABRP   GFPT2   GPRIN1   GRK6   GRM6   HAVCR1   HAVCR2   HIGD2A   HK3   HMMR   HNRNPAB   HNRNPH1   HRH2   IL12B   INSYN2B   ITK   KCNIP1   KCNMB1   KIAA1191   LCP2   LMAN2   LOC100288254   LSM11   LTC4S   MAML1   MAPK9   MAT2B   MED7   MGAT1   MGAT4B   MIR103A1   MIR146A   MRNIP   MSX2   MXD3   N4BP3   NEURL1B   NHP2   NIPAL4   NKX2-5   NOP16   NPM1   NSD1   NUDCD2   OR2V1   OR2V2   OR2Y1   PANK3   PDLIM7   PFN3   PHYKPL   PRELID1   PROP1   PRR7   PTTG1   PWWP2A   RAB24   RACK1   RANBP17   RARS1   RASGEF1C   RGS14   RMND5B   RNF130   RNF145   RNF44   RPL26L1   RUFY1   SCGB3A1   SFXN1   SGCD   SH3PXD2B   SIMC1   SLC34A1   SLIT3   SLU7   SMIM23   SNCB   SNORA74B   SOX30   SPDL1   SQSTM1   STC2   STK10   TBC1D9B   TENM2   THG1L   THOC3   TIMD4   TLX3   TMED9   TRIM41   TRIM52   TRIM7   TRK-CTT2-3   TRP-TGG3-1   TRT-TGT6-1   TRV-AAC1-4   TRV-CAC1-2   TSPAN17   TTC1   UBLCP1   UBTD2   UIMC1   UNC5A   WWC1   ZBED8   ZFP2   ZFP62   ZNF346   ZNF354A   ZNF354B   ZNF354C   ZNF454   ZNF879  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh375155,344,802 - 180,693,344CLINVAR
Cytogenetic Map55q33.2-35.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14360652
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-07-28
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.