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Variant : CV157437 (GRCh38/hg38 4p16.3(chr4:72555-4358718)x1) Homo sapiens

Symbol: CV157437
Name: GRCh38/hg38 4p16.3(chr4:72555-4358718)x1
Condition: See cases [RCV000136844]
Clinical Significance: pathogenic
Last Evaluated: 10/14/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC092535.4   AC116565.1   AC139887.2   ADD1   ADRA2C   ATP5ME   C4orf48   CFAP99   CPLX1   CTBP1   CTBP1-AS   CTBP1-DT   DGKQ   DOK7   FAM193A   FAM53A   FGFR3   FGFRL1   GAK   GRK4   HAUS3   HGFAC   HTT   HTT-AS   IDUA   LETM1   LINC00955   LINC02171   LRPAP1   LYAR   MAEA   MFSD10   MIR4800   MIR571   MIR943   MSANTD1   MXD4   MYL5   NAT8L   NELFA   NKX1-1   NOP14   NOP14-AS1   NSD2   OTOP1   PCGF3   PDE6B   PDE6B-AS1   PIGG   POLN   RGS12   RNF212   RNF4   SCARNA22   SH3BP2   SLBP   SLC26A1   SLC49A3   SPON2   TACC3   TMEM128   TMEM129   TMEM175   TMEM271   TNIP2   UVSSA   ZBTB49   ZFYVE28   ZNF141   ZNF595   ZNF718   ZNF721   ZNF732  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_72555)_(4358718_?)del
Human AssemblyChrPosition (strand)Source
GRCh38472,555 - 4,358,718CLINVAR
GRCh37472,447 - 4,360,445CLINVAR
Build 36462,447 - 4,411,346CLINVAR
Cytogenetic Map44p16.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9484405
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE


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