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Variant : CV597854 (GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3) Homo sapiens

Symbol: CV597854
Name: GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3
Condition: not provided [RCV000743154]
Clinical Significance: pathogenic
Last Evaluated: 05/23/2014
Review Status: no assertion criteria provided
Related Genes: ABLIM2   ACOX3   ADD1   ADGRA3   ADRA2C   AFAP1   ANAPC4   APBB2   ARAP2   ATP5ME   ATP8A1   BEND4   BLOC1S4   BOD1L1   BST1   C1QTNF7   C4orf19   C4orf48   C4orf50   CC2D2A   CCDC149   CCDC96   CCKAR   CD38   CHRNA9   CLNK   CLRN2   CPEB2   CPLX1   CPZ   CRMP1   CTBP1   CYTL1   DCAF16   DCAF4L1   DEFB131A   DGKQ   DHX15   DOK7   DRD5   DTHD1   EVC   EVC2   FAM114A1   FAM184B   FAM193A   FAM200B   FAM53A   FBXL5   FGFBP1   FGFBP2   FGFR3   FGFRL1   GABRA2   GABRG1   GAK   GBA3   GNPDA2   GPR78   GRK4   GRPEL1   GRXCR1   GUF1   HAUS3   HGFAC   HMX1   HS3ST1   HTRA3   HTT   IDUA   JAKMIP1   KCNIP4   KCTD8   KIAA0232   KLB   KLF3   KLHL5   LAP3   LCORL   LDB2   LETM1   LGI2   LIAS   LIMCH1   LINC01587   LRPAP1   LYAR   MAEA   MAN2B2   MED28   MFSD10   MIR95   MRFAP1   MRFAP1L1   MSANTD1   MSX1   MXD4   MYL5   N4BP2   NAT8L   NCAPG   NELFA   NKX1-1   NKX3-2   NOP14   NSD2   NSG1   NSUN7   NWD2   OTOP1   PACRGL   PCDH7   PCGF3   PDE6B   PDS5A   PGM2   PHOX2B   PI4K2B   PIGG   POLN   PPARGC1A   PPP2R2C   PROM1   PSAPL1   PTTG2   QDPR   RAB28   RBM47   RBPJ   RELL1   RFC1   RGS12   RHOH   RNF212   RNF4   RPL9   S100P   SEL1L3   SEPSECS   SH3BP2   SH3TC1   SHISA3   SLBP   SLC26A1   SLC2A9   SLC30A9   SLC34A2   SLC49A3   SLIT2   SMIM14   SMIM20   SOD3   SORCS2   SPON2   STIM2   STK32B   STX18   TACC3   TADA2B   TAPT1   TBC1D1   TBC1D14   TBC1D19   TLR1   TLR10   TLR6   TMEM128   TMEM129   TMEM156   TMEM175   TMEM33   TNIP2   TRMT44   UBE2K   UCHL1   UGDH   USP17L10   USP17L11   USP17L12   USP17L13   USP17L15   USP17L17   USP17L18   USP17L19   USP17L20   USP17L21   USP17L22   USP17L24   USP17L25   USP17L26   USP17L27   USP17L28   USP17L29   USP17L30   USP17L5   UVSSA   WDR1   WDR19   WFS1   YIPF7   ZBTB49   ZCCHC4   ZFYVE28   ZNF141   ZNF518B   ZNF595   ZNF718   ZNF721   ZNF732  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37449,450 - 46,339,070CLINVAR
Cytogenetic Map44p16.3-12CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14358525
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-07-07
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.