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Variant : CV71774 (GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3) Homo sapiens

Symbol: CV71774
Name: GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050830]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050830]|See cases [RCV000050830]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADCK5   ADCY8   ADGRB1   AGO2   ARC   ARHGAP39   ASAP1   ASAP1-IT1   ASAP1-IT2   BOP1   C8orf17   C8orf31   C8orf82   CCDC166   CCDC26   CCN4   CHRAC1   COL22A1   COMMD5   CPSF1   CYC1   CYHR1   CYP11B1   CYP11B2   CYRIB   DENND3   DGAT1   EEF1D   EFR3A   EPPK1   EXOSC4   FAM135B   FAM83H   FAM83H-AS1   FBXL6   FOXH1   GLI4   GML   GPAA1   GPIHBP1   GPR20   GPT   GRINA   GSDMC   GSDMD   HGH1   HHLA1   HPYR1   HSF1   IQANK1   JRK   KCNK9   KCNQ3   KHDRBS3   KIFC2   LINC00051   LINC00824   LINC00976   LINC00977   LINC01300   LINC01591   LINC02055   LINC02878   LNCOC1   LRRC14   LRRC24   LRRC6   LY6D   LY6E   LY6E-DT   LY6H   LY6K   LY6L   LYNX1   LYNX1-SLURP2   LYPD2   MAF1   MAFA   MAFA-AS1   MAPK15   MFSD3   MINCR   MIR10400   MIR1234   MIR1302-7   MIR151A   MIR30B   MIR30D   MIR3686   MIR4472-1   MIR4664   MIR5194   MIR661   MIR6845   MIR6846   MIR6847   MIR6848   MIR6849   MIR6850   MIR6893   MIR7112   MIR7848   MIR937   MIR939   MROH1   MROH5   MROH6   NAPRT   NCRNA00250   NDRG1   NRBP2   OC90   OPLAH   PARP10   PEG13   PHF20L1   PLEC   PPP1R16A   PSCA   PTCSC1   PTK2   PTP4A3   PUF60   PYCR3   RECQL4   RHPN1   RHPN1-AS1   RPL8   SCRIB   SCRT1   SCX   SHARPIN   SLA   SLC39A4   SLC45A4   SLC52A2   SLURP1   SLURP2   SNORD149   SPATC1   ST3GAL1   TG   THEM6   TIGD5   TMEM249   TMEM71   TONSL   TONSL-AS1   TOP1MT   TRAPPC9   TSNARE1   TSTA3   VPS28   WDR97   ZC3H3   ZFAT   ZFAT-AS1   ZFP41   ZNF16   ZNF250   ZNF251   ZNF252P-AS1   ZNF34   ZNF517   ZNF623   ZNF696   ZNF7   ZNF707  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_128220912)_(145049449_?)dup
Human AssemblyChrPosition (strand)Source
GRCh388128,220,912 - 145,049,449CLINVAR
GRCh378129,233,158 - 146,274,835CLINVAR
Build 368129,302,340 - 146,245,639CLINVAR
Cytogenetic Map88q24.21-24.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8617902
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.