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Variant : CV74428 (GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3) Homo sapiens

Symbol: CV74428
Name: GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701]
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   ADGRB1   AGO2   ARC   ARHGAP39   BOP1   C8orf17   C8orf31   C8orf33   C8orf82   CCDC166   CHRAC1   COMMD5   CPSF1   CYC1   CYHR1   CYP11B1   CYP11B2   DENND3   DGAT1   EEF1D   EPPK1   EXOSC4   FAM83H   FAM83H-AS1   FBXL6   FOXH1   GLI4   GML   GPAA1   GPIHBP1   GPR20   GPT   GRINA   GSDMD   HGH1   HSF1   IQANK1   JRK   KCNK9   KIFC2   LINC00051   LINC01300   LINC02878   LRRC14   LRRC24   LY6D   LY6E   LY6E-DT   LY6H   LY6K   LY6L   LYNX1   LYPD2   MAF1   MAFA   MAFA-AS1   MAPK15   MFSD3   MINCR   MIR1234   MIR1302-7   MIR151A   MIR4472-1   MIR4664   MIR661   MIR6845   MIR6846   MIR6847   MIR6848   MIR6849   MIR6850   MIR6893   MIR7112   MIR937   MIR939   MROH1   MROH5   MROH6   NAPRT   NRBP2   OPLAH   PARP10   PLEC   PPP1R16A   PSCA   PTK2   PTP4A3   PUF60   PYCR3   RECQL4   RHPN1   RHPN1-AS1   RPL8   SCRIB   SCRT1   SCX   SHARPIN   SLC39A4   SLC45A4   SLC52A2   SLURP1   SMPD5   SPATC1   THEM6   TIGD5   TMEM249   TONSL   TONSL-AS1   TOP1MT   TRAPPC9   TSNARE1   TSTA3   VPS28   WDR97   ZC3H3   ZFP41   ZNF16   ZNF250   ZNF251   ZNF252P-AS1   ZNF34   ZNF517   ZNF623   ZNF696   ZNF7   ZNF707  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_139447227)_(145054775_?)dup
NC_000008.10:g.(?_140459470)_(146280161_?)dup
NC_000008.9:g.(?_140528652)_(146250965_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh388139,447,227 - 145,054,775CLINVAR
GRCh378140,459,470 - 146,280,161CLINVAR
Build 368140,528,652 - 146,250,965CLINVAR
Cytogenetic Map88q24.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620619
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.