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Variant : CV165202 (GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3) Homo sapiens

Symbol: CV165202
Name: GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3
Condition: See cases [RCV000143515]
Clinical Significance: pathogenic
Last Evaluated: 07/16/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABL2   ACKR1   ADAM15   ADAMTS4   ADAMTSL4   ADAMTSL4-AS1   ADAMTSL4-AS2   ADAR   ADCY10   AIM2   ALDH9A1   ANGPTL1   ANKRD45   ANP32E   ANXA9   APCS   APH1A   APOA2   AQP10   ARHGAP30   ARHGEF11   ARHGEF2   ARNT   ASH1L   ASH1L-AS1   ASTN1   ATF6   ATP1A2   ATP1A4   ATP1B1   ATP8B2   AXDND1   B4GALT3   BCAN   BGLAP   BLZF1   BNIPL   BOLA1   BRINP2   C1orf105   C1orf112   C1orf189   C1orf220   C1orf226   C1orf43   C1orf54   C1orf56   C1orf61   C1orf68   C2CD4D   C2CD4D-AS1   CA14   CACYBP   CADM3   CADM3-AS1   CASQ1   CCDC181   CCDC190   CCT3   CD1A   CD1B   CD1C   CD1D   CD1E   CD244   CD247   CD48   CD5L   CD84   CDC42SE1   CELF3   CENPL   CEP350   CERS2   CFAP126   CFAP45   CGN   CHRNB2   CHTOP   CIART   CKS1B   CLEC20A   CLK2   COP1   COPA   CRABP2   CRCT1   CREB3L4   CREG1   CRNN   CRP   CRTC2   CRYZL2P-SEC16B   CTSK   CTSS   CTXND2   DAP3   DARS2   DCAF6   DCAF8   DCST1   DCST1-AS1   DCST2   DDR2   DEDD   DENND4B   DNM3   DNM3-IT1   DNM3OS   DPM3   DPT   DUSP12   DUSP23   DUSP27   ECM1   EEF1AKNMT   EFNA1   EFNA3   EFNA4   ENSA   ETV3   ETV3L   F11R   F5   FALEC   FAM163A   FAM189B   FAM20B   FAM78B   FAM78B-AS1   FASLG   FCER1A   FCER1G   FCGR2A   FCGR2B   FCGR2C   FCGR3A   FCGR3B   FCRL1   FCRL2   FCRL3   FCRL4   FCRL5   FCRL6   FCRLA   FCRLB   FDPS   FLAD1   FLG   FLG-AS1   FLG2   FMO1   FMO2   FMO3   FMO4   GABPB2   GAS5   GAS5-AS1   GATAD2B   GBA   GLMP   GOLPH3L   GON4L   GORAB   GORAB-AS1   GPA33   GPATCH4   GPR161   GPR52   H2AC20   H2AC21   H2BC21   H4C15   HAPLN2   HAX1   HCN3   HDGF   HORMAD1   HRNR   HSD17B7   HSPA6   IFI16   IGSF8   IGSF9   IL6R   IL6R-AS1   ILDR2   ILF2   INSRR   INTS3   IQGAP3   ISG20L2   ITLN1   ITLN2   IVL   JTB   KCNJ10   KCNJ9   KCNN3   KHDC4   KIAA0040   KIFAP3   KIRREL1   KIRREL1-IT1   KLHDC9   KLHL20   KPRP   KRTCAP2   LAMTOR2   LCE1A   LCE1B   LCE1C   LCE1D   LCE1E   LCE1F   LCE2A   LCE2B   LCE2C   LCE2D   LCE3A   LCE3B   LCE3C   LCE3D   LCE3E   LCE4A   LCE5A   LCE6A   LELP1   LENEP   LHX4   LINC00302   LINC00626   LINC00970   LINC01133   LINC01142   LINC01363   LINC01527   LINC01645   LINC01657   LINC01675   LINC01681   LINC01704   LINC01741   LINC02776   LINC02819   LINGO4   LMNA   LMX1A   LMX1A-AS1   LMX1A-AS2   LORICRIN   LRRC52   LRRC52-AS1   LRRC71   LY9   LYSMD1   MAEL   MCL1   MEF2D   METTL11B   METTL18   MEX3A   MGST3   MINDY1   MIR12116   MIR1255B2   MIR1295A   MIR1295B   MIR1843   MIR190B   MIR199A2   MIR214   MIR3119-1   MIR3119-2   MIR3120   MIR3658   MIR4257   MIR4258   MIR4259   MIR4424   MIR4654   MIR488   MIR5187   MIR554   MIR555   MIR556   MIR557   MIR5698   MIR6737   MIR6738   MIR6878   MIR765   MIR8083   MIR9-1   MIR921   MIR92B   MLLT11   MNDA   MPC2   MPZ   MPZL1   MROH9   MRPL24   MRPL9   MRPS14   MRPS21   MSTO1   MTMR11   MTX1   MUC1   MYOC   MYOCOS   NAXE   NCSTN   NDUFS2   NECTIN4   NES   NHLH1   NIT1   NME7   NOS1AP   NPHS2   NPR1   NR1I3   NTRK1   NUF2   NUP210L   OAZ3   OLFML2B   OR10J1   OR10J3   OR10J4   OR10J5   OR10K1   OR10K2   OR10R2   OR10T2   OR10X1   OR10Z1   OR6K2   OR6K3   OR6K6   OR6N1   OR6N2   OR6P1   OR6Y1   OTUD7B   PAPPA2   PAQR6   PBX1   PBX1-AS1   PBXIP1   PCP4L1   PEA15   PEAR1   PEX19   PFDN2   PGLYRP3   PGLYRP4   PI4KB   PIGC   PIGM   PIP5K1A   PKLR   PLEKHO1   PMF1   PMF1-BGLAP   PMVK   POGK   POGZ   POU2F1   PPOX   PRCC   PRDX6   PRPF3   PRR9   PRRC2C   PRRX1   PRUNE1   PSMB4   PSMD4   PYDC5   PYGO2   PYHIN1   QSOX1   RAB13   RAB25   RABGAP1L   RABGAP1L-DT   RALGPS2   RASAL2   RASAL2-AS1   RC3H1   RCSD1   RFX5   RGS4   RGS5   RHBG   RIIAD1   RIT1   RORC   RPRD2   RPS27   RPTN   RRNAD1   RUSC1   RUSC1-AS1   RXFP4   RXRG   S100A1   S100A10   S100A11   S100A12   S100A13   S100A14   S100A16   S100A2   S100A3   S100A4   S100A5   S100A6   S100A7   S100A7A   S100A8   S100A9   SCAMP3   SCARNA26A   SCARNA26B   SCARNA3   SCARNA4   SCNM1   SCYL3   SDHC   SEC16B   SELE   SELENBP1   SELL   SELP   SEMA4A   SEMA6C   SERPINC1   SETDB1   SF3B4   SFT2D2   SH2D1B   SH2D2A   SHC1   SHE   SLAMF1   SLAMF6   SLAMF7   SLAMF8   SLAMF9   SLC19A2   SLC25A44   SLC27A3   SLC39A1   SLC50A1   SLC9C2   SMCP   SMG5   SNAPIN   SNHG28   SNORA103   SNORA58B   SNORA80E   SNORD13C   SNORD44   SNORD47   SNORD74   SNORD75   SNORD76   SNORD77   SNORD78   SNORD79   SNORD80   SNORD81   SNX27   SOAT1   SPATA46   SPRR1A   SPRR1B   SPRR2A   SPRR2B   SPRR2D   SPRR2E   SPRR2F   SPRR2G   SPRR3   SPRR4   SPTA1   SSR2   SUCO   SV2A   SYT11   TADA1   TAGLN2   TARS2   TBX19   TCHH   TCHHL1   TDRD10   TDRD5   TDRKH   TDRKH-AS1   TEX35   TEX50   THBS3   THEM4   THEM5   TIPRL   TMCO1   TMCO1-AS1   TMEM79   TMOD4   TNFAIP8L2   TNFSF18   TNFSF4   TNN   TNR   TOMM40L   TOR1AIP1   TOR1AIP2   TOR3A   TPM3   TRD-GTC2-1   TRD-GTC2-2   TRD-GTC2-3   TRD-GTC2-4   TRD-GTC2-5   TRE-CTC1-2   TRE-CTC1-3   TRE-CTC1-4   TRE-CTC1-5   TRE-TTC4-2   TRG-GCC1-1   TRG-GCC1-2   TRG-GCC1-3   TRG-GCC1-4   TRG-GCC2-1   TRG-GCC4-1   TRG-TCC2-2   TRG-TCC2-3   TRG-TCC2-4   TRG-TCC2-5   TRG-TCC2-6   TRG-TCC4-1   TRIM46   TRL-CAA6-1   TRL-CAG1-1   TRL-CAG1-2   TRL-CAG1-3   TRL-CAG1-4   TRL-CAG1-5   TRL-CAG1-6   TRN-GTT1-1   TRN-GTT2-2   TRP-AGG2-1   TRP-CGG1-1   TRR-TCT4-1   TRV-CAC1-1   TRX-CAT1-1   TSACC   TSTD1   TTC24   TUFT1   UAP1   UBAP2L   UBE2Q1   UBE2Q1-AS1   UBQLN4   UCK2   UFC1   UHMK1   USF1   USP21   VAMP4   VANGL2   VHLL   VPS45   VPS72   VSIG8   XCL1   XCL2   YY1AP1   ZBTB37   ZBTB7B   ZNF687   ZNF687-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_149854269)_(180267197_?)dup
NC_000001.10:g.(?_149825831)_(180236332_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381149,854,269 - 180,267,197CLINVAR
GRCh371149,825,831 - 180,236,332CLINVAR
Build 361148,092,455 - 178,502,955CLINVAR
Cytogenetic Map11q21.2-25.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491113
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.