Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV71711 (GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3) Homo sapiens

Symbol: CV71711
Name: GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3
Condition: See cases [RCV000050747]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCC2   ABLIM1   ACSL5   ACSM6   ACTR1A   ADD3   ADD3-AS1   ADRA2A   ADRB1   AFAP1L2   AL137025.1   AL139243.1   AL158212.3   AL356608.3   ALDH18A1   ANKRD2   ARHGAP19   ARHGAP19-SLIT1   ARL3   ARMH3   AS3MT   ATP5MK   ATRNL1   AVPI1   BBIP1   BLNK   BLOC1S2   BORCS7   BORCS7-ASMT   BTRC   C10orf62   C10orf82   C10orf95   C10orf95-AS1   CALHM1   CALHM2   CALHM3   CASP7   CC2D2B   CCDC172   CCDC186   CCNJ   CFAP43   CFAP58   CFAP58-DT   CHUK   CNNM1   CNNM2   COL17A1   COX15   CPN1   CRTAC1   CUEDC2   CUTC   CWF19L1   CYP17A1   CYP17A1-AS1   DCLRE1A   DNMBP   DNMBP-AS1   DNTT   DPCD   DUSP5   DUSP5-DT   ELOVL3   ENTPD1   ENTPD1-AS1   ENTPD7   ERLIN1   EXOSC1   FAM160B1   FBXL15   FBXW4   FGF8   FRA10B   FRAT1   FRAT2   GBF1   GFRA1   GOLGA7B   GOT1   GPAM   GSTO1   GSTO2   HABP2   HEAT2   HIF1AN   HOGA1   HPS1   HPS6   HPSE2   HSPA12A   INA   ITPRIP   ITPRIP-AS1   KAZALD1   KCNIP2   KCNIP2-AS1   LBX1   LBX1-AS1   LCOR   LDB1   LINC00866   LINC01435   LINC01475   LINC01514   LINC02620   LINC02624   LINC02626   LINC02627   LINC02661   LINC02681   LOC102723665   LOC105378479   LOC108281165   LOC109136576   LOC110120845   LOC110120850   LOC110120886   LOC110120887   LOC110121311   LOC110121472   LOC110121505   LOC110408762   LOC111501773   LOC111832675   LOC111875816   LOC111875817   LOC111875818   LOC111875819   LOC111875820   LOC111875821   LOC111875822   LOC111875823   LOC111875824   LOC111875825   LOC111875826   LOC111982883   LOC111982884   LOC111982885   LOC111982886   LOC111982887   LOC111982888   LOC113939913   LOC113939914   LOC116216118   LOC116216119   LOC116216120   LOC116216121   LOC644215   LOXL4   LZTS2   MARVELD1   MFSD13A   MIR1287   MIR1307   MIR146B   MIR2110   MIR3085   MIR3157   MIR3158-1   MIR3158-2   MIR4295   MIR4482   MIR4483   MIR4680   MIR4685   MIR548E   MIR607   MIR608   MIR609   MIR6507   MIR6715A   MIR6715B   MIR936   MMS19   MORN4   MRPL43   MXI1   NDUFB8   NEURL1   NEURL1-AS1   NFKB2   NHLRC2   NKX2-3   NOLC1   NPM3   NRAP   NT5C2   OGA   OLMALINC   OPALIN   PAX2   PCGF6   PDCD11   PDCD4   PDCD4-AS1   PDLIM1   PDZD7   PGAM1   PI4K2A   PIK3AP1   PITX3   PKD2L1   PLEKHS1   PNLIP   PNLIPRP1   PNLIPRP2   PNLIPRP3   POLL   PPRC1   PSD   PYROXD2   R3HCC1L   RBM20   RPEL1   RRP12   SCD   SEC31B   SEMA4G   SFR1   SFRP5   SFXN2   SFXN3   SH3PXD2A   SH3PXD2A-AS1   SHOC2   SLC25A28   SLF2   SLIT1   SLIT1-AS1   SLK   SMC3   SMNDC1   SNORA12   SNORA87   SNORD158   SORBS1   SORCS1   SORCS3   SORCS3-AS1   STN1   SUFU   TAF5   TCF7L2   TCTN3   TDRD1   TECTB   TLL2   TLX1   TLX1NB   TM9SF3   TRIM8   TRUB1   TWNK   UBTD1   VTI1A   VWA2   WBP1L   WNT8B   XPNPEP1   ZDHHC16   ZDHHC6   ZFYVE27   ZNF518A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_95112607)_(116776637_?)dup
NC_000010.10:g.(?_96872364)_(118383651_?)dup
NC_000010.9:g.(?_96862354)_(118526138_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381095,112,607 - 116,776,637CLINVAR
GRCh371096,872,364 - 118,383,651CLINVAR
Build 361096,862,354 - 118,526,138CLINVAR
Cytogenetic Map1010q23.33-25.3CLINVAR
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: 8617829
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-24
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.