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Variant : CV74476 (GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3) Homo sapiens

Symbol: CV74476
Name: GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3
Condition: Global developmental delay [RCV000053752]|See cases [RCV000053752]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCA1   ABITRAM   ACTL7A   ACTL7B   ALAD   ALDOB   ALG2   ANKS6   ANP32B   AOPEP   ASPN   AUH   BAAT   BARX1   BARX1-DT   BICD2   BSPRY   C9orf129   C9orf147   C9orf152   C9orf43   C9orf47   CARD19   CAVIN4   CCDC180   CDC14B   CDC26   CENPP   CKS2   COL15A1   CORO2A   CT70   CTNNAL1   CTSV   CYLC2   DIRAS2   DNAJC25   DNAJC25-GNG10   ECM2   ECPAS   ELP1   EPB41L4B   ERCC6L2   ERP44   FAM120A   FAM120AOS   FAM225A   FAM225B   FANCC   FBP1   FBP2   FGD3   FKBP15   FKTN   FOXE1   FRRS1L   FSD1L   GABBR2   GADD45G   GALNT12   GNG10   GRIN3A   HABP4   HDHD3   HEMGN   HSD17B3   HSD17B3-AS1   HSDL2   IARS1   INIP   INVS   IPPK   KIAA1958   KLF4   LINC00092   LINC00475   LINC00476   LINC00484   LINC00587   LINC01492   LINC01501   LINC01505   LINC01508   LINC01509   LINC02603   LINC02843   LPAR1   MFSD14B   MFSD14C   MIR1302-8   MIR2278   MIR23B   MIR24-1   MIR27B   MIR3074   MIR3153   MIR32   MIR3651   MIR3910-1   MIR3910-2   MIR3927   MIR4289   MIR4290   MIR4290HG   MIR4291   MIR4668   MIR4670   MIR548AU   MIR6081   MIR6854   MIR7702   MIR8081   MIRLET7A1   MIRLET7D   MIRLET7F1   MRPL50   MSANTD3   MSANTD3-TMEFF1   MUSK   NAMA   NANS   NCBP1   NFIL3   NINJ1   NIPSNAP3A   NIPSNAP3B   NOL8   NR4A3   NUTM2F   NUTM2G   NXNL2   OGN   OMD   OR13C2   OR13C3   OR13C4   OR13C5   OR13C8   OR13C9   OR13D1   OR13F1   OR2K2   PALM2AKAP2   PCAT7   PGAP4   PHF2   PLPPR1   POLE3   PPP3R2   PRPF4   PRSS47   PRXL2C   PTBP3   PTCH1   PTCSC2   PTGR1   PTPDC1   PTPN3   RAD23B   RGS3   RNF183   RNF20   ROR2   S1PR3   SEC61B   SECISBP2   SEMA4D   SHC3   SHOC1   SLC31A1   SLC31A2   SLC35D2   SLC44A1   SLC46A2   SMC2   SMC2-AS1   SNORA84   SNX30   SPTLC1   STX17   STX17-AS1   SUGT1P4-STRA6LP-CCDC180   SUSD1   SUSD3   SVEP1   SYK   TAL2   TBC1D2   TDRD7   TEX10   TGFBR1   TMEFF1   TMEM245   TMEM246-AS1   TMEM38B   TMOD1   TRIM14   TRMO   TRR-TCG6-1   TSTD2   TXN   TXNDC8   UGCG   WDR31   WNK2   XPA   ZFP37   ZNF169   ZNF189   ZNF367   ZNF462   ZNF483   ZNF484   ZNF510   ZNF782   ZNF883  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_88522292)_(113687796_?)dup
NC_000009.11:g.(?_91137207)_(116450076_?)dup
NC_000009.10:g.(?_90327027)_(115489897_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38988,522,292 - 113,687,796CLINVAR
GRCh37991,137,207 - 116,450,076CLINVAR
Build 36990,327,027 - 115,489,897CLINVAR
Cytogenetic Map99q22.1-32CLINVAR
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: 8620667
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.