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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: 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   AC073585.1   ACADSB   ACSL5   ACTR1A   ADAM12   ADD3   ADD3-AS1   ADRA2A   ADRB1   AFAP1L2   AL137025.1   AL158212.3   AL158835.1   AL356608.3   AL589787.1   AL603764.2   ARL3   ARMH3   ARMS2   AS-PTPRE   AS3MT   ATE1   ATE1-AS1   ATP5MD   ATRNL1   BAG3   BBIP1   BCCIP   BLOC1S2   BNIP3   BORCS7   BORCS7-ASMT   BTBD16   BTRC   BUB3   C10orf120   C10orf143   C10orf82   C10orf88   C10orf90   C10orf95   C10orf95-AS1   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   DUSP5-DT   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   FRA10B   GBF1   GFRA1   GLRX3   GPAM   GPR26   GRK5   GRK5-IT1   GSTO1   GSTO2   HABP2   HEAT2   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   LOC105378479   LOC109136576   LOC110120845   LOC110120846   LOC110120850   LOC110120851   LOC110120852   LOC110120886   LOC110120887   LOC110120892   LOC110120898   LOC110120916   LOC110120919   LOC110120924   LOC110120928   LOC110120938   LOC110120952   LOC110121311   LOC110121334   LOC110121344   LOC110121396   LOC110121472   LOC110408762   LOC111501773   LOC111818958   LOC111818962   LOC111818963   LOC111875816   LOC111875817   LOC111875818   LOC111875819   LOC111875820   LOC111875821   LOC111875822   LOC111875823   LOC111875824   LOC111875825   LOC111875826   LOC111875827   LOC111875828   LOC111875829   LOC111875830   LOC111875831   LOC111875832   LOC111875833   LOC111875834   LOC111875835   LOC113939913   LOC113939914   LOC113939915   LOC116216120   LOC116216121   LOC116216122   LOC116216123   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   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
 
RGD Object Information
RGD ID: 8620490
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
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.