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Variant : CV74048 (GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1) Homo sapiens

Symbol: CV74048
Name: GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|See cases [RCV000053295]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTS3   AFM   AFP   ALB   ANKRD17   ANTXR2   ANXA3   AREG   ART3   BMP2K   BMP3   BTC   CCDC158   CCNG2   CCNI   CDKL2   CFAP299   CNOT6L   COX18   CXCL1   CXCL10   CXCL11   CXCL13   CXCL2   CXCL3   CXCL5   CXCL6   CXCL8   CXCL9   EPGN   EREG   FAM47E   FAM47E-STBD1   FGF5   FRAS1   G3BP2   GC   GK2   LINC00989   LINC01088   LINC01094   LINC02483   LINC02499   LINC02562   MIR4450   MIR548AH   MRPL1   MTHFD2L   NAA11   NAAA   NPFFR2   NUP54   ODAPH   PAQR3   PARM1   PCAT4   PF4   PF4V1   PPBP   PPBPP1   PPBPP2   PPEF2   PRDM8   PRKG2   RASGEF1B   RASSF6   RCHY1   SCARB2   SDAD1   SEPTIN11   SHROOM3   SLC4A4   SOWAHB   STBD1   THAP6   USO1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_71079179)_(81802208_?)del
NC_000004.11:g.(?_71944896)_(82723361_?)del
NC_000004.10:g.(?_72163760)_(82942385_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38471,079,179 - 81,802,208CLINVAR
GRCh37471,944,896 - 82,723,361CLINVAR
Build 36472,163,760 - 82,942,385CLINVAR
Cytogenetic Map44q13.3-21.22CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620232
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.