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Variant : CV435474 (GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3) Homo sapiens

Symbol: CV435474
Name: GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3
Condition: See cases [RCV000511193]
Clinical Significance: pathogenic
Last Evaluated: 06/22/2015
Review Status: no assertion criteria provided
Related Genes: AASDH   ABLIM2   ACOX3   ADD1   ADGRA3   ADGRL3   ADRA2C   AFAP1   ANAPC4   APBB2   ARAP2   ARL9   ATP10D   ATP5ME   ATP8A1   BEND4   BLOC1S4   BOD1L1   BST1   C1QTNF7   C4orf19   C4orf48   C4orf50   CC2D2A   CCDC149   CCDC96   CCKAR   CD38   CEP135   CHIC2   CHRNA9   CLNK   CLOCK   CLRN2   CNGA1   COMMD8   CORIN   COX7B2   CPEB2   CPLX1   CPZ   CRACD   CRMP1   CTBP1   CWH43   CYTL1   DANCR   DCAF16   DCAF4L1   DCUN1D4   DEFB131A   DGKQ   DHX15   DOK7   DRD5   DTHD1   EPHA5   ERVMER34-1   EVC   EVC2   EXOC1   FAM114A1   FAM184B   FAM193A   FAM200B   FAM53A   FBXL5   FGFBP1   FGFBP2   FGFR3   FGFRL1   FIP1L1   FRYL   GABRA2   GABRA4   GABRB1   GABRG1   GAK   GBA3   GNPDA2   GPR78   GRK4   GRPEL1   GRXCR1   GSX2   GUF1   HAUS3   HGFAC   HMX1   HOPX   HS3ST1   HTRA3   HTT   IDUA   IGFBP7   JAKMIP1   KCNIP4   KCTD8   KDR   KIAA0232   KIT   KLB   KLF3   KLHL5   LAP3   LCORL   LDB2   LETM1   LGI2   LIAS   LIMCH1   LINC01587   LNX1   LRPAP1   LRRC66   LYAR   MAEA   MAN2B2   MED28   MFSD10   MIR4449   MIR95   MRFAP1   MRFAP1L1   MSANTD1   MSX1   MXD4   MYL5   N4BP2   NAT8L   NCAPG   NELFA   NFXL1   NIPAL1   NKX1-1   NKX3-2   NMU   NOA1   NOP14   NSD2   NSG1   NSUN7   NWD2   OCIAD1   OCIAD2   OTOP1   PACRGL   PAICS   PCDH7   PCGF3   PDCL2   PDE6B   PDGFRA   PDS5A   PGM2   PHOX2B   PI4K2B   PIGG   POLN   POLR2B   PPARGC1A   PPAT   PPP2R2C   PROM1   PSAPL1   PTTG2   QDPR   RAB28   RASL11B   RBM47   RBPJ   RELL1   REST   RFC1   RGS12   RHOH   RNF212   RNF4   RPL9   S100P   SCFD2   SEL1L3   SEPSECS   SGCB   SH3BP2   SH3TC1   SHISA3   SLAIN2   SLBP   SLC10A4   SLC26A1   SLC2A9   SLC30A9   SLC34A2   SLC49A3   SLIT2   SMIM14   SMIM20   SNORA26   SOD3   SORCS2   SPATA18   SPINK2   SPON2   SRD5A3   SRP72   STIM2   STK32B   STX18   TACC3   TADA2B   TAPT1   TBC1D1   TBC1D14   TBC1D19   TEC   TECRL   THEGL   TLR1   TLR10   TLR6   TMEM128   TMEM129   TMEM156   TMEM165   TMEM175   TMEM33   TNIP2   TRMT44   TXK   UBE2K   UCHL1   UGDH   USP17L10   USP17L11   USP17L12   USP17L13   USP17L15   USP17L17   USP17L18   USP17L19   USP17L20   USP17L21   USP17L22   USP17L24   USP17L25   USP17L26   USP17L27   USP17L28   USP17L29   USP17L30   USP17L5   USP46   UVSSA   WDR1   WDR19   WFS1   YIPF7   ZAR1   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
GRCh37468,345 - 66,440,622CLINVAR
Cytogenetic Map44p16.3-q13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13444168
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-06-23
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.