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Variant : CV74047 (GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1) Homo sapiens

Symbol: CV74047
Name: GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABRAXAS1   ADAMTS3   AFM   AFP   ALB   AMBN   AMTN   ANKRD17   ANTXR2   ANXA3   AREG   ARHGAP24   ART3   BMP2K   BMP3   BTC   CABS1   CCDC158   CCNG2   CCNI   CDKL2   CDS1   CFAP299   CNOT6L   COPS4   COQ2   COX18   CSN1S1   CSN2   CSN3   CXCL1   CXCL10   CXCL11   CXCL13   CXCL2   CXCL3   CXCL5   CXCL6   CXCL8   CXCL9   DCK   ENAM   ENOPH1   EPGN   EREG   FAM47E   FAM47E-STBD1   FDCSP   FGF5   FRAS1   G3BP2   GC   GCOM2   GK2   GPAT3   GRSF1   HELQ   HNRNPD   HNRNPDL   HPSE   HTN1   HTN3   JCHAIN   LIN54   LINC00575   LINC00989   LINC01088   LINC01094   LINC02483   LINC02499   LINC02562   MIR4450   MIR548AH   MIR575   MOB1B   MRPL1   MRPS18C   MTHFD2L   MUC7   NAA11   NAAA   NKX6-1   NPFFR2   NUP54   ODAM   ODAPH   OPRPN   PAQR3   PARM1   PCAT4   PF4   PF4V1   PLAC8   PPBP   PPBPP1   PPBPP2   PPEF2   PRDM8   PRKG2   PRR27   RASGEF1B   RASSF6   RCHY1   RUFY3   SCARB2   SCD5   SDAD1   SEC31A   SEPTIN11   SHROOM3   SLC4A4   SMR3A   SMR3B   SNORD143   SNORD144   SOWAHB   STATH   STBD1   SULT1B1   SULT1E1   SYT14P1   THAP6   THAP9   THAP9-AS1   TMEM150C   TMPRSS11A   TMPRSS11B   TMPRSS11D   TMPRSS11E   TMPRSS11F   UGT2A1   UGT2A2   UGT2A3   UGT2B10   UGT2B11   UGT2B15   UGT2B17   UGT2B28   UGT2B4   UGT2B7   USO1   UTP3   WDFY3   WDFY3-AS2   YTHDC1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_67869564)_(85517308_?)del
NC_000004.11:g.(?_68735282)_(86438461_?)del
NC_000004.10:g.(?_68417877)_(86657485_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38467,869,564 - 85,517,308CLINVAR
GRCh37468,735,282 - 86,438,461CLINVAR
Build 36468,417,877 - 86,657,485CLINVAR
Cytogenetic Map44q13.2-21.23CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620231
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.