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Variant : CV436198 (GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1) Homo sapiens

Symbol: CV436198
Name: GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1
Condition: See cases [RCV000511351]
Clinical Significance: pathogenic
Last Evaluated: 07/01/2014
Review Status: no assertion criteria provided
Related Genes: ABLIM2   ACOX3   ADD1   ADRA2C   AFAP1   ATP5ME   BLOC1S4   BOD1L1   C4orf48   C4orf50   CCDC96   CLNK   CPLX1   CPZ   CRMP1   CTBP1   CYTL1   DEFB131A   DGKQ   DOK7   DRD5   EVC   EVC2   FAM193A   FAM53A   FGFR3   FGFRL1   GAK   GPR78   GRK4   GRPEL1   HAUS3   HGFAC   HMX1   HS3ST1   HTRA3   HTT   IDUA   JAKMIP1   KIAA0232   LETM1   LINC01587   LRPAP1   LYAR   MAEA   MAN2B2   MFSD10   MIR95   MRFAP1   MRFAP1L1   MSANTD1   MSX1   MXD4   MYL5   NAT8L   NELFA   NKX1-1   NKX3-2   NOP14   NSD2   NSG1   OTOP1   PCGF3   PDE6B   PIGG   POLN   PPP2R2C   PSAPL1   RAB28   RGS12   RNF212   RNF4   S100P   SH3BP2   SH3TC1   SLBP   SLC26A1   SLC2A9   SLC49A3   SORCS2   SPON2   STK32B   STX18   TACC3   TADA2B   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   UVSSA   WDR1   WFS1   ZBTB49   ZFYVE28   ZNF141   ZNF518B   ZNF595   ZNF718   ZNF721   ZNF732  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37468,345 - 13,770,107CLINVAR
Cytogenetic Map44p16.3-15.33CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13444324
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE


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