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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: Global developmental delay [RCV000050747]|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   ALDH18A1   ANKRD2   ARHGAP19   ARHGAP19-SLIT1   ARL3   ARMH3   AS3MT   ATP5MD   ATRNL1   AVPI1   BBIP1   BLNK   BLOC1S2   BORCS7   BORCS7-ASMT   BTRC   C10orf62   C10orf82   C10orf95   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   ELOVL3   ENTPD1   ENTPD1-AS1   ENTPD7   ERLIN1   EXOSC1   FAM160B1   FBXL15   FBXW4   FGF8   FRAT1   FRAT2   GBF1   GFRA1   GOLGA7B   GOT1   GPAM   GSTO1   GSTO2   HABP2   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   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   RPARP-AS1   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
 
CRRD Object Information
CRRD ID: 8617829
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.