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Variant : CV247879 (GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1) Homo sapiens

Symbol: CV247879
Name: GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1
Condition: See cases [RCV000240003]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ABLIM2   ACOX3   ADD1   ADGRA3   ADRA2C   AFAP1   ANAPC4   ATP5ME   BLOC1S4   BOD1L1   BST1   C1QTNF7   C4orf48   C4orf50   CC2D2A   CCDC149   CCDC96   CCKAR   CD38   CLNK   CLRN2   CPEB2   CPLX1   CPZ   CRMP1   CTBP1   CYTL1   DCAF16   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   IDUA   JAKMIP1   KCNIP4   KIAA0232   LAP3   LCORL   LDB2   LETM1   LGI2   LINC01587   LRPAP1   LYAR   MAEA   MAN2B2   MED28   MFSD10   MIR95   MRFAP1   MRFAP1L1   MSANTD1   MSX1   MXD4   MYL5   NAT8L   NCAPG   NELFA   NKX1-1   NKX3-2   NOP14   NSD2   NSG1   OTOP1   PACRGL   PCGF3   PDE6B   PI4K2B   PIGG   POLN   PPARGC1A   PPP2R2C   PROM1   PSAPL1   QDPR   RAB28   RBPJ   RGS12   RNF212   RNF4   S100P   SEL1L3   SEPSECS   SH3BP2   SH3TC1   SLBP   SLC26A1   SLC2A9   SLC34A2   SLC49A3   SLIT2   SMIM20   SOD3   SORCS2   SPON2   STIM2   STK32B   STX18   TACC3   TADA2B   TAPT1   TBC1D14   TBC1D19   TMEM128   TMEM129   TMEM175   TNIP2   TRMT44   USP17L10   USP17L11   USP17L12   USP17L13   USP17L15   USP17L17   USP17L18   USP17L19   USP17L20   USP17L21   USP17L22   USP17L24   USP17L25   USP17L26   USP17L27   USP17L28   USP17L29   USP17L30   USP17L5   UVSSA   WDR1   WFS1   ZBTB49   ZCCHC4   ZFYVE28   ZNF141   ZNF518B   ZNF595   ZNF718   ZNF721   ZNF732  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37471,552 - 29,006,745CLINVAR
Cytogenetic Map44p16.3-15.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 11541474
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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