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Variant : CV71834 (GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3) Homo sapiens

Symbol: CV71834
Name: GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3
Condition: See cases [RCV000050906]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABLIM2   AC092535.4   AC097382.2   AC116565.1   AC139887.2   ADD1   ADRA2C   AFAP1   AFAP1-AS1   ATP5ME   BLOC1S4   C4orf48   C4orf50   CCDC96   CFAP99   CPLX1   CRMP1   CTBP1   CTBP1-AS   CTBP1-DT   CYTL1   DGKQ   DOK7   EVC   EVC2   FAM193A   FAM53A   FGFR3   FGFRL1   GAK   GRK4   GRPEL1   HAUS3   HGFAC   HTT   HTT-AS   IDUA   JAKMIP1   KIAA0232   LETM1   LINC00955   LINC01396   LINC01587   LINC02171   LINC02447   LINC02481   LINC02482   LINC02495   LOC389199   LRPAP1   LYAR   MAEA   MAN2B2   MFSD10   MIR378D1   MIR4274   MIR4798   MIR4800   MIR571   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   SLC49A3   SNORD162   SORCS2   SPON2   STK32B   STX18   STX18-AS1   STX18-IT1   TACC3   TADA2B   TBC1D14   TMEM128   TMEM129   TMEM175   TMEM271   TNIP2   UVSSA   WFS1   ZBTB49   ZFYVE28   ZNF141   ZNF595   ZNF718   ZNF721   ZNF732  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_51519)_(8222798_?)dup
NC_000004.11:g.(?_51413)_(8224525_?)dup
NC_000004.10:g.(?_41413)_(8275425_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38451,519 - 8,222,798CLINVAR
GRCh37451,413 - 8,224,525CLINVAR
Build 36441,413 - 8,275,425CLINVAR
Cytogenetic Map44p16.3-16.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617967
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-08
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.