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Variant : CV72500 (GRCh38/hg38 4p16.3(chr4:72555-3206313)x1) Homo sapiens

Symbol: CV72500
Name: GRCh38/hg38 4p16.3(chr4:72555-3206313)x1
Condition: See cases [RCV000051645]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC092535.4   AC116565.1   AC139887.2   ADD1   ATP5ME   C4orf48   CFAP99   CPLX1   CTBP1   CTBP1-AS   CTBP1-DT   DGKQ   FAM193A   FAM53A   FGFR3   FGFRL1   GAK   GRK4   HAUS3   HTT   HTT-AS   IDUA   LETM1   LOC100130872   LOC106804089   LOC107986211   LOC109461479   LOC110120693   LOC112939930   LOC114004382   LOC114004383   LOC116158483   LOC116158484   MAEA   MFSD10   MIR4800   MIR571   MIR943   MXD4   MYL5   NAT8L   NELFA   NKX1-1   NOP14   NOP14-AS1   NSD2   PCGF3   PDE6B   PDE6B-AS1   PIGG   POLN   RNF212   RNF4   SCARNA22   SH3BP2   SLBP   SLC26A1   SLC49A3   SPON2   TACC3   TMEM129   TMEM175   TMEM271   TNIP2   UVSSA   ZFYVE28   ZNF141   ZNF595   ZNF718   ZNF721   ZNF732  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_72555)_(3206313_?)del
NC_000004.11:g.(?_72447)_(3208040_?)del
NC_000004.10:g.(?_62447)_(3177838_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38472,555 - 3,206,313CLINVAR
GRCh37472,447 - 3,208,040CLINVAR
Build 36462,447 - 3,177,838CLINVAR
Cytogenetic Map44p16.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618660
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
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.