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Variant : CV71998 (GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1) Homo sapiens

Symbol: CV71998
Name: GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051103]|See cases [RCV000051103]
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   BCCIP   BNIP3   BTBD16   BUB3   C10orf120   C10orf143   C10orf88   C10orf90   CALY   CFAP46   CHST15   CLRN3   CPXM2   CTBP2   CUZD1   CYP2E1   DHX32   DMBT1   DOCK1   DPYSL4   EBF3   ECHS1   EDRF1   EDRF1-AS1   EDRF1-DT   EEF1AKMT2   FAM24A   FAM24B   FAM53B   FAM53B-AS1   FANK1   FANK1-AS1   FGFR2   FOXI2   FUOM   GLRX3   GPR26   HMX2   HMX3   HTRA1   IKZF5   INPP5A   INSYN2A   JAKMIP3   KNDC1   LHPP   LINC00601   LINC01153   LINC01163   LINC01164   LINC01165   LINC01166   LINC01167   LINC01168   LINC01561   LINC02641   LINC02667   LINC02870   LRRC27   MGMT   MIR202   MIR202HG   MIR378C   MIR3941   MIR3944   MIR4296   MIR4297   MIR4484   MKI67   MMP21   MTG1   NKX1-2   NKX6-2   NPS   NSMCE4A   OAT   PAOX   PLEKHA1   PLPP4   PPP2R2D   PRAP1   PSTK   PTPRE   PWWP2B   SPRN   STK32C   SYCE1   TACC2   TCERG1L   TCERG1L-AS1   TEX36   TEX36-AS1   TUBGCP2   UROS   UTF1   VENTX   WDR11   WDR11-AS1   ZNF511   ZRANB1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.10:g.(?_122213942)_(135434178_?)del
NC_000010.9:g.(?_122203932)_(135284168_?)del
NC_000010.11:g.(?_120454430)_(133620674_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3810120,454,430 - 133,620,674CLINVAR
GRCh3710122,213,942 - 135,434,178CLINVAR
Build 3610122,203,932 - 135,284,168CLINVAR
Cytogenetic Map1010q26.12-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618145
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.