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Variant : CV74302 (GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3) Homo sapiens

Symbol: CV74302
Name: GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3
Condition: Global developmental delay [RCV000053564]|See cases [RCV000053564]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABLIM1   ABRAXAS2   ACADSB   ACSL5   ACTR1A   ADAM12   ADD3   ADD3-AS1   ADRA2A   ADRB1   AFAP1L2   ARL3   ARMH3   ARMS2   AS3MT   ATE1   ATE1-AS1   ATP5MD   ATRNL1   BAG3   BBIP1   BCCIP   BLOC1S2   BNIP3   BORCS7   BORCS7-ASMT   BTBD16   BTRC   BUB3   C10orf120   C10orf143   C10orf82   C10orf88   C10orf90   C10orf95   CACUL1   CALHM1   CALHM2   CALHM3   CASC2   CASP7   CCDC172   CCDC186   CFAP43   CFAP58   CFAP58-DT   CHST15   CHUK   CLRN3   CNNM2   COL17A1   CPXM2   CTBP2   CUEDC2   CUZD1   CWF19L1   CYP17A1   CYP17A1-AS1   DCLRE1A   DENND10   DHX32   DMBT1   DOCK1   DPCD   DPYSL4   DUSP5   EBF3   EDRF1   EDRF1-AS1   EDRF1-DT   EEF1AKMT2   EIF3A   ELOVL3   EMX2   EMX2OS   ENO4   FAM160B1   FAM204A   FAM24A   FAM24B   FAM53B   FAM53B-AS1   FANK1   FANK1-AS1   FBXL15   FBXW4   FGF8   FGFR2   FOXI2   GBF1   GFRA1   GLRX3   GPAM   GPR26   GRK5   GRK5-IT1   GSTO1   GSTO2   HABP2   HIF1AN   HMX2   HMX3   HPS6   HSPA12A   HTRA1   IKZF5   INA   INPP5F   INSYN2A   ITPRIP   ITPRIP-AS1   JAKMIP3   KAZALD1   KCNIP2   KCNIP2-AS1   KCNK18   LBX1   LBX1-AS1   LDB1   LHPP   LINC00601   LINC00867   LINC01153   LINC01163   LINC01164   LINC01435   LINC01514   LINC01561   LINC02620   LINC02624   LINC02626   LINC02627   LINC02641   LINC02661   LINC02667   LINC02674   LINC02681   LRRC27   LZTS2   MCMBP   MFSD13A   MGMT   MIR1307   MIR146B   MIR2110   MIR3158-1   MIR3158-2   MIR3663   MIR3663HG   MIR378C   MIR3941   MIR4295   MIR4296   MIR4297   MIR4482   MIR4483   MIR4484   MIR4680   MIR4681   MIR4682   MIR548E   MIR608   MIR609   MIR6715A   MIR6715B   MIR936   MIR9851   MKI67   MMP21   MRPL43   MXI1   NANOS1   NDUFB8   NEURL1   NEURL1-AS1   NFKB2   NHLRC2   NKX1-2   NOLC1   NPM3   NPS   NRAP   NSMCE4A   NT5C2   OAT   OGA   OLMALINC   PAX2   PCGF6   PDCD11   PDCD4   PDCD4-AS1   PDZD7   PDZD8   PITX3   PKD2L1   PLEKHA1   PLEKHS1   PLPP4   PNLIP   PNLIPRP1   PNLIPRP2   PNLIPRP3   POLL   PPP2R2D   PPRC1   PRDX3   PRLHR   PSD   PSTK   PTPRE   PWWP2B   RAB11FIP2   RBM20   RGS10   RPARP-AS1   RPEL1   SCD   SEC23IP   SEC31B   SEMA4G   SFR1   SFXN2   SFXN3   SFXN4   SH3PXD2A   SH3PXD2A-AS1   SHOC2   SHTN1   SLC18A2   SLF2   SLK   SMC3   SMNDC1   SNORA12   SNORA19   SNORA87   SNORD158   SORCS1   SORCS3   SORCS3-AS1   STK32C   STN1   SUFU   TACC2   TAF5   TCERG1L   TCERG1L-AS1   TCF7L2   TDRD1   TECTB   TEX36   TEX36-AS1   TIAL1   TLX1   TLX1NB   TRIM8   TRUB1   TWNK   UROS   VAX1   VTI1A   VWA2   WBP1L   WDR11   WDR11-AS1   WNT8B   XPNPEP1   ZDHHC6   ZRANB1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_100194215)_(132432797_?)dup
NC_000010.10:g.(?_101953972)_(134246301_?)dup
NC_000010.9:g.(?_101943962)_(134096291_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3810100,194,215 - 132,432,797CLINVAR
GRCh3710101,953,972 - 134,246,301CLINVAR
Build 3610101,943,962 - 134,096,291CLINVAR
Cytogenetic Map1010q24.31-26.3CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620490
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.