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Variant : CV74323 (GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3) Homo sapiens

Symbol: CV74323
Name: GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053589]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053589]|See cases [RCV000053589]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABRAXAS2   ACADSB   ADAM12   ADAM8   ADGRA1   ADGRA1-AS1   ARMS2   ATE1   ATE1-AS1   BAG3   BCCIP   BNIP3   BTBD16   BUB3   C10orf120   C10orf143   C10orf88   C10orf90   CACUL1   CALY   CASC2   CFAP46   CHST15   CLRN3   CPXM2   CTBP2   CUZD1   CYP2E1   DENND10   DHX32   DMBT1   DOCK1   DPYSL4   EBF3   ECHS1   EDRF1   EDRF1-AS1   EDRF1-DT   EEF1AKMT2   EIF3A   FAM204A   FAM24A   FAM24B   FAM53B   FAM53B-AS1   FANK1   FANK1-AS1   FGFR2   FOXI2   FUOM   GLRX3   GPR26   GRK5   GRK5-IT1   HMX2   HMX3   HTRA1   IKZF5   INPP5A   INPP5F   INSYN2A   JAKMIP3   KNDC1   LHPP   LINC00601   LINC00867   LINC01153   LINC01163   LINC01164   LINC01165   LINC01166   LINC01167   LINC01168   LINC01561   LINC02641   LINC02667   LINC02870   LRRC27   MCMBP   MGMT   MIR202   MIR202HG   MIR378C   MIR3941   MIR3944   MIR4296   MIR4297   MIR4484   MIR4681   MIR4682   MKI67   MMP21   MTG1   NANOS1   NKX1-2   NKX6-2   NPS   NSMCE4A   OAT   PAOX   PLEKHA1   PLPP4   PPP2R2D   PRAP1   PRDX3   PRLHR   PSTK   PTPRE   PWWP2B   RAB11FIP2   RGS10   SEC23IP   SFXN4   SNORA19   SPRN   STK32C   SYCE1   TACC2   TCERG1L   TCERG1L-AS1   TEX36   TEX36-AS1   TIAL1   TUBGCP2   UROS   UTF1   VENTX   WDR11   WDR11-AS1   ZNF511   ZRANB1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_117866565)_(133554210_?)dup
NC_000010.10:g.(?_119626076)_(135367714_?)dup
NC_000010.9:g.(?_119616066)_(135217704_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3810117,866,565 - 133,554,210CLINVAR
GRCh3710119,626,076 - 135,367,714CLINVAR
Build 3610119,616,066 - 135,217,704CLINVAR
Cytogenetic Map1010q26.11-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620512
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.