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Variant : CV435774 (GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3) Homo sapiens

Symbol: CV435774
Name: GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3
Condition: See cases [RCV000510986]
Clinical Significance: pathogenic
Last Evaluated: 06/23/2014
Review Status: no assertion criteria provided
Related Genes: ACER2   ACO1   ADAMTSL1   ANKRD18B   APTX   AQP3   AQP7   ARID3C   B4GALT1   BAG1   C9orf131   C9orf24   C9orf72   CAAP1   CCL19   CCL21   CCL27   CDKN2A   CDKN2B   CDKN2B-AS1   CHMP5   CNTFR   CNTLN   DCAF12   DCTN3   DDX58   DENND4C   DMRTA1   DNAI1   DNAJA1   DNAJB5   ELAVL2   ENHO   EQTN   FAM166B   FAM205A   FAM214B   FAM219A   FANCG   FOCAD   GALT   HACD4   HAUS6   IFNA1   IFNA10   IFNA13   IFNA14   IFNA16   IFNA17   IFNA2   IFNA21   IFNA4   IFNA5   IFNA6   IFNA7   IFNA8   IFNB1   IFNE   IFNW1   IFT74   IL11RA   IZUMO3   KIF24   KLHL9   LINGO2   LRRC19   MIR31   MLLT3   MOB3B   MTAP   MYORG   NDUFB6   NFX1   NOL6   NUDT2   PHF24   PIGO   PLAA   PLIN2   PRSS3   RPP25L   RPS6   RRAGA   RUSC2   SAXO1   SH3GL2   SIGMAR1   SLC24A2   SMU1   SPINK4   STOML2   TAF1L   TEK   TMEM215   TOPORS   TUSC1   UBAP1   UBAP2   UBE2R2   UNC13B   VCP  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37917,132,123 - 35,567,051CLINVAR
Cytogenetic Map99p22.2-13.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13443963
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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