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Variant : CV74473 (GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3) Homo sapiens

Symbol: CV74473
Name: GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3
Condition: Global developmental delay [RCV000053749]|See cases [RCV000053749]
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   ADAMTSL1   BNC2   BNC2-AS1   C9orf72   C9orf92   CAAP1   CCDC171   CDKN2A   CDKN2A-DT   CDKN2B   CDKN2B-AS1   CER1   CNTLN   DENND4C   DMRTA1   ELAVL2   EQTN   ERVFRD-3   FOCAD   FOCAD-AS1   FREM1   HACD4   HAUS6   IFNA1   IFNA10   IFNA13   IFNA14   IFNA16   IFNA17   IFNA2   IFNA21   IFNA4   IFNA5   IFNA6   IFNA7   IFNA8   IFNB1   IFNE   IFNK   IFNW1   IFT74   IFT74-AS1   IZUMO3   KLHL9   LINC00032   LINC00583   LINC01235   LINC01239   LINC01241   LINGO2   LRRC19   LURAP1L   LURAP1L-AS1   MIR31   MIR3152   MIR31HG   MIR4473   MIR4474   MIR491   MIR873   MIR876   MLLT3   MOB3B   MPDZ   MTAP   NFIB   PLAA   PLIN2   PSIP1   PTPRD   PTPRD-AS2   RPS6   RRAGA   SAXO1   SCARNA8   SH3GL2   SLC24A2   SNAPC3   SNORA30B   SNORD137   TEK   TRH-GTG1-6   TTC39B   TUSC1   TYRP1   ZDHHC21  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_9543538)_(30266463_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3899,543,538 - 30,266,463CLINVAR
GRCh3799,543,538 - 30,266,461CLINVAR
Build 3699,533,538 - 30,256,461CLINVAR
Cytogenetic Map99p23-21.1CLINVAR
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: 8620664
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE


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