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Variant : CV157127 (GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1) Homo sapiens

Symbol: CV157127
Name: GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1
Condition: See cases [RCV000136572]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC092535.4   AC116565.1   AC139887.2   ADD1   ADRA2C   ATP5ME   C4orf48   C4orf50   CFAP99   CPLX1   CRMP1   CTBP1   CTBP1-AS   CTBP1-DT   CYTL1   DGKQ   DOK7   EVC   EVC2   FAM193A   FAM53A   FGFR3   FGFRL1   GAK   GRK4   HAUS3   HGFAC   HTT   HTT-AS   IDUA   JAKMIP1   LETM1   LINC00955   LINC01396   LINC01587   LINC02171   LINC02495   LOC100130872   LOC101928279   LOC101928306   LOC106804089   LOC107986211   LOC109461479   LOC110120693   LOC110120757   LOC111519897   LOC112939930   LOC112939936   LOC112942284   LOC114004382   LOC114004383   LOC116158483   LOC116158484   LRPAP1   LYAR   MAEA   MFSD10   MIR378D1   MIR4800   MIR571   MIR943   MSANTD1   MSX1   MXD4   MYL5   NAT8L   NELFA   NKX1-1   NOP14   NOP14-AS1   NSD2   NSG1   OTOP1   PCGF3   PDE6B   PDE6B-AS1   PIGG   POLN   RGS12   RNF212   RNF4   SCARNA22   SH3BP2   SLBP   SLC26A1   SLC49A3   SNORD162   SPON2   STK32B   STX18   STX18-AS1   STX18-IT1   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)_(6243425_?)del
Human AssemblyChrPosition (strand)Source
GRCh38472,555 - 6,243,425CLINVAR
GRCh37472,447 - 6,245,152CLINVAR
Build 36462,447 - 6,296,053CLINVAR
Cytogenetic Map44p16.3-16.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9484133
Created: 2014-09-09
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.