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Variant : CV74049 (GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1) Homo sapiens

Symbol: CV74049
Name: GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|See cases [RCV000053296]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCG2   ABRAXAS1   AFF1   AFF1-AS1   ANTXR2   ANXA3   AREG   ARHGAP24   ART3   BMP2K   BMP3   BTC   C4orf36   CCDC158   CCNG2   CCNI   CCSER1   CDKL2   CDS1   CFAP299   CNOT6L   COPS4   COQ2   CXCL10   CXCL11   CXCL13   CXCL2   CXCL3   CXCL9   DMP1   DSPP   ENOPH1   EPGN   EREG   FAM13A   FAM13A-AS1   FAM47E   FAM47E-STBD1   FGF5   FRAS1   G3BP2   GK2   GPAT3   GPRIN3   HELQ   HERC3   HERC5   HERC6   HNRNPD   HNRNPDL   HPSE   HSD17B11   HSD17B13   IBSP   KLHL8   LIN54   LINC00575   LINC00989   LINC01088   LINC01094   LINC02483   LINC02562   MAPK10   MEPE   MIR4450   MIR4451   MIR4452   MIR548AH   MIR5705   MIR575   MMRN1   MRPL1   MRPS18C   MTHFD2L   NAA11   NAAA   NAP1L5   NKX6-1   NUDT9   NUP54   ODAPH   PAQR3   PARM1   PCAT4   PIGY   PKD2   PLAC8   PPBPP2   PPEF2   PPM1K   PRDM8   PRKG2   PTPN13   PYURF   RASGEF1B   RCHY1   RNU6-33P   SCARB2   SCD5   SDAD1   SEC31A   SEPTIN11   SHROOM3   SLC10A6   SNCA   SNCA-AS1   SNORD143   SNORD144   SOWAHB   SPARCL1   SPP1   STBD1   THAP6   THAP9   THAP9-AS1   TIGD2   TMEM150C   USO1   WDFY3   WDFY3-AS2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_74031395)_(90421127_?)del
NC_000004.11:g.(?_74897112)_(91342278_?)del
NC_000004.10:g.(?_75115976)_(91561301_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38474,031,395 - 90,421,127CLINVAR
GRCh37474,897,112 - 91,342,278CLINVAR
Build 36475,115,976 - 91,561,301CLINVAR
Cytogenetic Map44q13.3-22.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620233
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.