Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV437145 (GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3) Homo sapiens

Symbol: CV437145
Name: GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3
Condition: See cases [RCV000510970]
Clinical Significance: pathogenic
Last Evaluated: 05/05/2014
Review Status: no assertion criteria provided
Related Genes: AADAT   ABCE1   ABHD18   ACSL1   ADAD1   ADAM29   ADH1A   ADH1B   ADH1C   ADH4   ADH5   ADH6   ADH7   AGA   AIMP1   ALPK1   ANAPC10   ANK2   ANKRD37   ANKRD50   ANP32C   ANXA10   ANXA5   AP1AR   ARFIP1   ARHGAP10   ARHGEF38   ARSJ   ASB5   ASIC5   ATOH1   BANK1   BBS12   BBS7   BDH2   BMPR1B   C4orf17   C4orf3   C4orf33   C4orf45   C4orf46   C4orf47   C4orf51   CAMK2D   CASP3   CASP6   CBR4   CCDC110   CCNA2   CDKN2AIP   CENPE   CENPU   CEP44   CFAP97   CFI   CISD2   CLCN3   CLDN22   CLDN24   CLGN   COL25A1   CPE   CTSO   CXXC4   CYP2U1   CYP4V2   DAPP1   DCHS2   DCLK2   DCTD   DDIT4L   DDX60   DDX60L   DKK2   DNAJB14   EDNRA   EGF   EIF4E   ELF2   ELMOD2   ELOVL6   EMCN   ENPEP   ENPP6   ETFDH   ETNPPL   EXOSC9   F11   FABP2   FAM149A   FAM160A1   FAM218A   FAM241A   FAT1   FAT4   FBXO8   FBXW7   FGA   FGB   FGF2   FGG   FHDC1   FNIP2   FREM3   FRG1   FRG2   FSTL5   GAB1   GALNT7   GALNTL6   GAR1   GASK1B   GATB   GIMD1   GLRA3   GLRB   GPM6A   GRIA2   GRID2   GSTCD   GUCY1A1   GUCY1B1   GYPA   GYPB   GYPE   H2AZ1   HADH   HAND2   HELT   HHIP   HMGB2   HPF1   HPGD   HPGDS   HSPA4L   IL15   IL2   IL21   ING2   INPP4B   INTS12   INTU   IRF2   JADE1   KIAA1109   KLHL2   KLKB1   LAMTOR3   LARP1B   LARP7   LEF1   LRAT   LRBA   LRIT3   LRP2BP   LSM6   MAB21L2   MAD2L1   MAML3   MANBA   MAP9   MARCHF1   MCUB   METAP1   METTL14   MFAP3L   MFSD8   MGARP   MGAT4D   MGST2   MIR302A   MIR302B   MIR302C   MIR302D   MIR367   MMAA   MND1   MSMO1   MTNR1A   MTTP   MYOZ2   NAA15   NAF1   NDNF   NDST3   NDST4   NDUFC1   NEIL3   NEK1   NEUROG2   NFKB1   NOCT   NPNT   NPY1R   NPY2R   NPY5R   NR3C2   NUDT6   OSTC   OTUD4   PABPC4L   PALLD   PAPSS1   PCDH10   PCDH18   PDE5A   PDGFC   PDHA2   PDLIM3   PDLIM5   PGRMC2   PITX2   PLA2G12A   PLK4   PLRG1   POU4F2   PPA2   PPID   PPP3CA   PRDM5   PRIMPOL   PRMT9   PRSS12   PRSS48   QRFPR   RAB33B   RAP1GDS1   RAPGEF2   RBM46   RNF150   RNF175   RPL34   RPS3A   RRH   RWDD4   RXFP1   SAP30   SCLT1   SCOC   SCRG1   SEC24B   SEC24B-AS1   SEC24D   SETD7   SFRP2   SGMS2   SH3D19   SH3RF1   SLC10A7   SLC25A31   SLC25A4   SLC39A8   SLC7A11   SLC9B1   SLC9B2   SMAD1   SMARCA5   SMARCAD1   SNHG8   SNORD73A   SNX25   SORBS2   SPATA4   SPATA5   SPCS3   SPOCK3   SPRY1   STOX2   STPG2   SYNPO2   TACR3   TBC1D9   TBCK   TDO2   TENM3   TET2   TIFA   TIGD4   TKTL2   TLL1   TLR2   TLR3   TMA16   TMEM131L   TMEM144   TMEM154   TMEM155   TMEM184C   TMEM192   TNIP3   TRAM1L1   TRAPPC11   TRIM2   TRIM60   TRIM61   TRIML1   TRIML2   TRMT10A   TRPC3   TSPAN5   TTC29   UBE2D3   UCP1   UFSP2   UGT8   UNC5C   USP38   USP53   VEGFC   WDR17   WWC2   ZFP42   ZGRF1   ZNF330   ZNF827  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.11:g.(?_93071152)_(190957473_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh37493,071,152 - 190,957,473CLINVAR
Cytogenetic Map44q22.1-35.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13443947
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.