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

Variant : CV72605 (GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3) Homo sapiens

Symbol: CV72605
Name: GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABLIM2   ACOX3   ADD1   ADGRA3   ADRA2C   AFAP1   AFAP1-AS1   ANAPC4   ATP5ME   BLOC1S4   BOD1L1   BST1   C1QTNF7   C4orf48   C4orf50   CC2D2A   CCDC149   CCDC96   CCKAR   CD38   CFAP99   CLNK   CLRN2   CPEB2   CPEB2-DT   CPLX1   CPZ   CRMP1   CTBP1   CTBP1-AS   CTBP1-DT   CYTL1   DCAF16   DEFB108F   DEFB131A   DGKQ   DHX15   DOK7   DRD5   EVC   EVC2   FAM184B   FAM193A   FAM200B   FAM53A   FBXL5   FGFBP1   FGFBP2   FGFR3   FGFRL1   GAK   GBA3   GPR78   GRK4   GRPEL1   HAUS3   HGFAC   HMX1   HS3ST1   HTRA3   HTT   HTT-AS   IDUA   JAKMIP1   KCNIP4   KCNIP4-IT1   KIAA0232   LAP3   LCORL   LDB2   LETM1   LGI2   LINC00504   LINC00955   LINC01085   LINC01096   LINC01097   LINC01182   LINC01396   LINC01587   LINC02171   LINC02270   LINC02360   LINC02447   LINC02481   LINC02482   LINC02493   LINC02495   LINC02517   LOC389199   LRPAP1   LYAR   MAEA   MAN2B2   MED28   MFSD10   MIR218-1   MIR3138   MIR378D1   MIR4274   MIR4798   MIR4800   MIR5091   MIR548I2   MIR571   MIR572   MIR573   MIR7978   MIR943   MIR95   MRFAP1   MRFAP1L1   MSANTD1   MSX1   MXD4   MYL5   NAT8L   NCAPG   NELFA   NKX1-1   NKX3-2   NOP14   NOP14-AS1   NSD2   NSG1   OTOP1   PACRGL   PCGF3   PDE6B   PI4K2B   PIGG   POLN   PPARGC1A   PPP2R2C   PROM1   PSAPL1   QDPR   RAB28   RBPJ   RGS12   RNF212   RNF4   S100P   SCARNA22   SEL1L3   SEPSECS   SEPSECS-AS1   SH3BP2   SH3TC1   SLBP   SLC26A1   SLC2A9   SLC34A2   SLC49A3   SLIT2   SLIT2-IT1   SMIM20   SOD3   SORCS2   SPON2   STK32B   STX18   STX18-AS1   STX18-IT1   TACC3   TADA2B   TAPT1   TAPT1-AS1   TBC1D14   TMEM128   TMEM129   TMEM175   TNIP2   TRMT44   USP17L10   USP17L11   USP17L12   USP17L13   USP17L15   USP17L17   USP17L18   USP17L19   USP17L20   USP17L21   USP17L22   USP17L24   USP17L25   USP17L26   USP17L27   USP17L28   USP17L29   USP17L30   USP17L5   USP17L9P   UVSSA   WDR1   WFS1   ZBTB49   ZCCHC4   ZFYVE28   ZNF141   ZNF518B   ZNF595   ZNF718   ZNF721   ZNF732  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_51519)_(26519788_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38451,519 - 26,519,788CLINVAR
GRCh37451,413 - 26,521,410CLINVAR
Build 36441,413 - 26,130,508CLINVAR
Cytogenetic Map44p16.3-15.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability

Additional Information

RGD Object Information
RGD ID: 8618765
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE


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