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Variant : CV381443 (GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3) Homo sapiens

Symbol: CV381443
Name: GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3
Condition: See cases [RCV000448245]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABLIM3   ACSL6   ADAM19   ADAMTS19   ADAMTS2   ADRA1B   ADRB2   AFAP1L1   AFF4   ALDH7A1   ANKHD1   ANKHD1-EIF4EBP3   ANXA6   AP3S1   APBB3   APC   ARAP3   ARHGAP26   ARHGEF37   ARL10   ARL14EPL   ARSI   ATG12   ATOX1   ATP10B   ATP6V0E1   B4GALT7   BNIP1   BOD1   BRD8   BTNL3   BTNL8   BTNL9   C1QTNF2   C5orf15   C5orf24   C5orf46   C5orf47   C5orf52   C5orf58   C5orf60   C5orf63   CAMK2A   CAMK4   CAMLG   CANX   CATSPER3   CBY3   CCDC112   CCDC69   CCNG1   CCNI2   CCNJL   CD14   CD74   CDC23   CDC25C   CDC42SE2   CDHR2   CDKL3   CDKN2AIPNL   CDO1   CDX1   CEP120   CHSY3   CLINT1   CLK4   CLTB   CNOT6   CNOT8   COL23A1   COMMD10   CPEB4   CPLX2   CREBRF   CSF1R   CSF2   CSNK1A1   CSNK1G3   CTNNA1   CTXN3   CXCL14   CXXC5   CYFIP2   CYSTM1   DBN1   DCANP1   DCP2   DCTN4   DDX41   DDX46   DELE1   DIAPH1   DMXL1   DNAJC18   DND1   DOCK2   DOK3   DPYSL3   DRD1   DTWD2   DUSP1   EBF1   ECSCR   EFCAB9   EFNA5   EGR1   EIF4E1B   EIF4EBP3   EPB41L4A   ERGIC1   ETF1   F12   FABP6   FAF2   FAM114A2   FAM13B   FAM153A   FAM153B   FAM170A   FAM193B   FAM53C   FAM71B   FAT2   FAXDC2   FBN2   FBXL17   FBXO38   FBXW11   FCHSD1   FEM1C   FER   FGF1   FGF18   FGFR4   FLT4   FNDC9   FNIP1   FOXI1   FSTL4   FTMT   G3BP1   GABRA1   GABRA6   GABRB2   GABRG2   GABRP   GALNT10   GDF9   GEMIN5   GFPT2   GFRA3   GLRA1   GM2A   GNPDA1   GPR151   GPRIN1   GPX3   GRAMD2B   GRIA1   GRK6   GRM6   GRPEL2   GRXCR2   HAND1   HARS1   HARS2   HAVCR1   HAVCR2   HBEGF   HDAC3   HIGD2A   HINT1   HK3   HMGXB3   HMHB1   HMMR   HNRNPA0   HNRNPAB   HNRNPH1   HRH2   HSD17B4   HSPA4   HSPA9   HTR4   IGIP   IK   IL12B   IL13   IL17B   IL3   IL4   IL5   IL9   INSYN2B   IRF1   IRGM   ISOC1   ITK   JADE2   JAKMIP2   KCNIP1   KCNMB1   KCNN2   KCTD16   KDM3B   KIAA1191   KIF20A   KIF3A   KIF4B   KLHL3   LARP1   LARS1   LCP2   LEAP2   LECT2   LMAN2   LMNB1   LOC100288254   LOX   LRRTM2   LSM11   LTC4S   LVRN   LYRM7   MACROH2A1   MAML1   MAN2A1   MAPK9   MARCHF3   MAT2B   MATR3   MCC   MED7   MEGF10   MFAP3   MGAT1   MGAT4B   MINAR2   MIR103A1   MIR143   MIR145   MIR146A   MIR378A   MRNIP   MRPL22   MSX2   MXD3   MYOT   MYOZ3   MZB1   N4BP3   NDFIP1   NDST1   NDUFA2   NEURL1B   NEUROG1   NHP2   NIPAL4   NKX2-5   NME5   NMUR2   NOP16   NPM1   NR3C1   NREP   NRG2   NSD1   NUDCD2   OR2V1   OR2V2   OR2Y1   P4HA2   PAIP2   PANK3   PCBD2   PCDH1   PCDH12   PCDHA1   PCDHA10   PCDHA11   PCDHA12   PCDHA13   PCDHA2   PCDHA3   PCDHA4   PCDHA5   PCDHA6   PCDHA7   PCDHA8   PCDHA9   PCDHA@   PCDHAC1   PCDHAC2   PCDHB1   PCDHB10   PCDHB11   PCDHB12   PCDHB13   PCDHB14   PCDHB15   PCDHB16   PCDHB2   PCDHB3   PCDHB4   PCDHB5   PCDHB6   PCDHB7   PCDHB8   PCDHB9   PCDHB@   PCDHGA1   PCDHGA10   PCDHGA11   PCDHGA12   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGA9   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5   PCDHGB6   PCDHGB7   PCDHGC3   PCDHGC4   PCDHGC5   PCYOX1L   PDE6A   PDGFRB   PDLIM4   PDLIM7   PFDN1   PFN3   PGGT1B   PHAX   PHYKPL   PITX1   PJA2   PKD2L2   PLAC8L1   POU4F3   PPARGC1B   PPIC   PPP2CA   PPP2R2B   PRDM6   PRELID1   PRELID2   PROB1   PROP1   PRR16   PRR7   PRRC1   PSD2   PTTG1   PURA   PWWP2A   RAB24   RACK1   RAD50   RANBP17   RAPGEF6   RARS1   RASGEF1C   RBM22   RBM27   REEP2   REEP5   RELL2   RGS14   RMND5B   RNF130   RNF14   RNF145   RNF44   RPL26L1   RPS14   RUFY1   SAP30L   SAR1B   SCGB3A1   SCGB3A2   SEC24A   SEMA6A   SEPTIN8   SFXN1   SGCD   SH3PXD2B   SH3RF2   SH3TC2   SHROOM1   SIL1   SIMC1   SKP1   SLC12A2   SLC22A4   SLC22A5   SLC23A1   SLC25A2   SLC25A46   SLC25A48   SLC26A2   SLC27A6   SLC34A1   SLC35A4   SLC36A1   SLC36A2   SLC36A3   SLC4A9   SLC6A7   SLIT3   SLU7   SMAD5   SMIM23   SMIM3   SNCAIP   SNCB   SNHG4   SNORA74B   SNX2   SNX24   SOWAHA   SOX30   SPARC   SPATA24   SPDL1   SPINK1   SPINK13   SPINK14   SPINK5   SPINK6   SPINK7   SPINK9   SPOCK1   SPRY4   SQSTM1   SRA1   SRFBP1   SRP19   STARD4   STC2   STING1   STK10   STK32A   SYNPO   TAF7   TBC1D9B   TCERG1   TCF7   TCOF1   TENM2   TEX43   TGFBI   THG1L   THOC3   TICAM2   TIFAB   TIGD6   TIMD4   TLX3   TMCO6   TMED7   TMED7-TICAM2   TMED9   TMEM232   TNFAIP8   TNIP1   TRIM36   TRIM41   TRIM52   TRIM7   TRK-CTT2-3   TRP-TGG3-1   TRPC7   TRT-TGT6-1   TRV-AAC1-4   TRV-CAC1-2   TSLP   TSPAN17   TSSK1B   TTC1   TXNDC15   UBE2B   UBE2D2   UBLCP1   UBTD2   UIMC1   UNC5A   UQCRQ   VDAC1   VTRNA1-1   VTRNA1-2   VTRNA1-3   VTRNA2-1   WDR36   WDR55   WNT8A   WWC1   YIPF5   YTHDC2   ZBED8   ZCCHC10   ZFP2   ZFP62   ZMAT2   ZNF300   ZNF346   ZNF354A   ZNF354B   ZNF354C   ZNF454   ZNF474   ZNF608   ZNF879  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh375106,716,357 - 180,687,338CLINVAR
Cytogenetic Map55q21.3-35.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12852955
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-21
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.