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Variant : CV74434 (GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3) Homo sapiens

Symbol: CV74434
Name: GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3
Condition: Global developmental delay [RCV000053707]|See cases [RCV000053707]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACER2   ACO1   ADAMTSL1   AK3   APTX   B4GALT1   B4GALT1-AS1   BAG1   BNC2   BNC2-AS1   C9orf72   C9orf92   CAAP1   CCDC171   CD274   CDC37L1   CDC37L1-DT   CDKN2A   CDKN2A-DT   CDKN2B   CDKN2B-AS1   CER1   CHMP5   CNTLN   DDX58   DENND4C   DMAC1   DMRT1   DMRT2   DMRT3   DMRTA1   DNAJA1   DOCK8   DOCK8-AS1   ELAVL2   EQTN   ERMP1   ERVFRD-3   FOCAD   FOCAD-AS1   FREM1   GLDC   GLIS3   GLIS3-AS1   HACD4   HAUS6   IFNA1   IFNA10   IFNA13   IFNA14   IFNA16   IFNA17   IFNA2   IFNA21   IFNA4   IFNA5   IFNA6   IFNA7   IFNA8   IFNB1   IFNE   IFNK   IFNW1   IFT74   IFT74-AS1   IL33   INSL4   INSL6   IZUMO3   JAK2   KANK1   KCNV2   KDM4C   KIAA2026   KLHL9   LINC00032   LINC00583   LINC01230   LINC01231   LINC01235   LINC01239   LINC01241   LINC01242   LINC01243   LINC02851   LINGO2   LRRC19   LURAP1L   LURAP1L-AS1   MIR101-2   MIR12117   MIR31   MIR3152   MIR31HG   MIR4473   MIR4474   MIR4665   MIR491   MIR873   MIR876   MLANA   MLLT3   MOB3B   MPDZ   MTAP   NDUFB6   NFIB   PDCD1LG2   PLAA   PLGRKT   PLIN2   PLPP6   PSIP1   PTPRD   PTPRD-AS1   PTPRD-AS2   PUM3   RANBP6   RCL1   RFX3   RFX3-AS1   RIC1   RLN1   RLN2   RPS6   RRAGA   SAXO1   SCARNA8   SH3GL2   SLC1A1   SLC24A2   SMARCA2   SMIM27   SMU1   SNAPC3   SNORA30B   SNORD137   SPATA6L   SPINK4   TAF1L   TEK   TMEM215   TOPORS   TPD52L3   TRH-GTG1-6   TTC39B   TUSC1   TYRP1   UHRF2   VLDLR   VLDLR-AS1   ZDHHC21  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_204193)_(33284638_?)dup
NC_000009.11:g.(?_204193)_(33284636_?)dup
NC_000009.10:g.(?_194193)_(33274636_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389204,193 - 33,284,638CLINVAR
GRCh379204,193 - 33,284,636CLINVAR
Build 369194,193 - 33,274,636CLINVAR
Cytogenetic Map99p24.3-13.3CLINVAR
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: 8620625
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.