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Variant : CV158893 (GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1) Homo sapiens

Symbol: CV158893
Name: GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1
Condition: See cases [RCV000138198]
Clinical Significance: pathogenic
Last Evaluated: 03/09/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABLIM2   AC092535.4   AC097382.2   AC116565.1   AC139887.2   ACOX3   ADD1   ADRA2C   AFAP1   AFAP1-AS1   ATP5ME   BLOC1S4   C4orf48   C4orf50   CCDC96   CFAP99   CLNK   CPLX1   CPZ   CRMP1   CTBP1   CTBP1-AS   CTBP1-DT   CYTL1   DEFB131A   DGKQ   DOK7   DRD5   EVC   EVC2   FAM193A   FAM53A   FAM90A26   FGFR3   FGFRL1   GAK   GPR78   GRK4   GRPEL1   HAUS3   HGFAC   HMX1   HS3ST1   HTRA3   HTT   HTT-AS   IDUA   JAKMIP1   KIAA0232   LETM1   LINC00955   LINC01396   LINC01587   LINC02171   LINC02270   LINC02360   LINC02447   LINC02481   LINC02482   LINC02495   LINC02517   LOC389199   LRPAP1   LYAR   MAEA   MAN2B2   MFSD10   MIR12113   MIR3138   MIR378D1   MIR4274   MIR4798   MIR4800   MIR548I2   MIR571   MIR572   MIR943   MIR95   MRFAP1   MRFAP1L1   MSANTD1   MSX1   MXD4   MYL5   NAT8L   NELFA   NKX1-1   NOP14   NOP14-AS1   NSD2   NSG1   OTOP1   PCGF3   PDE6B   PDE6B-AS1   PIGG   POLN   PPP2R2C   PSAPL1   RGS12   RNF212   RNF4   S100P   SCARNA22   SH3BP2   SH3TC1   SLBP   SLC26A1   SLC2A9   SLC2A9-AS1   SLC49A3   SNORD162   SORCS2   SPON2   STK32B   STX18   STX18-AS1   STX18-IT1   TACC3   TADA2B   TBC1D14   TMEM128   TMEM129   TMEM175   TMEM271   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)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_72555)_(12898612_?)del
NC_000004.11:g.(?_72447)_(12900236_?)del
NC_000004.10:g.(?_62447)_(12509334_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38472,555 - 12,898,612CLINVAR
GRCh37472,447 - 12,900,236CLINVAR
Build 36462,447 - 12,509,334CLINVAR
Cytogenetic Map44p16.3-15.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485747
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.