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Variant : CV554870 (GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4) Homo sapiens

Symbol: CV554870
Name: GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4
Condition: not provided [RCV000683175]
Clinical Significance: pathogenic
Last Evaluated: 08/30/2017
Review Status: no assertion criteria provided
Related Genes: ACER2   ACO1   ADAMTSL1   AK3   ALDH1B1   ANKRD18A   ANKRD18B   ANKRD20A1   ANKRD20A2   ANKRD20A3   ANKRD20A4   APTX   AQP3   AQP7   ARHGEF39   ARID3C   B4GALT1   BAG1   BNC2   C9orf131   C9orf24   C9orf72   CA9   CAAP1   CBWD3   CBWD5   CBWD6   CCDC107   CCDC171   CCIN   CCL19   CCL21   CCL27   CD274   CD72   CDC37L1   CDKN2A   CDKN2B   CDKN2B-AS1   CER1   CHMP5   CLTA   CNTFR   CNTLN   CNTNAP3   CNTNAP3B   CREB3   DCAF10   DCAF12   DCTN3   DDX58   DENND4C   DMAC1   DMRT1   DMRT2   DMRT3   DMRTA1   DNAI1   DNAJA1   DNAJB5   DOCK8   DOCK8-AS1   ELAVL2   ENHO   EQTN   ERMP1   EXOSC3   FAM166B   FAM205A   FAM214B   FAM219A   FAM221B   FAM27D1   FANCG   FBXO10   FOCAD   FOXD4L3   FOXD4L4   FOXD4L5   FOXD4L6   FREM1   FRMPD1   GALT   GBA2   GLDC   GLIPR2   GLIS3   GNE   GRHPR   HACD4   HAUS6   HINT2   HRCT1   IFNA1   IFNA10   IFNA13   IFNA14   IFNA16   IFNA17   IFNA2   IFNA21   IFNA4   IFNA5   IFNA6   IFNA7   IFNA8   IFNB1   IFNE   IFNW1   IFT74   IGFBPL1   IL11RA   IL33   INSL4   INSL6   IZUMO3   JAK2   KANK1   KCNV2   KDM4C   KIAA2026   KIF24   KLHL9   LINC00537   LINGO2   LRRC19   LURAP1L   MELK   MIR101-2   MIR31   MLANA   MLLT3   MOB3B   MPDZ   MSMP   MTAP   MYORG   NDUFB6   NFIB   NFX1   NOL6   NPR2   NUDT2   OR13J1   OR2S2   PAX5   PDCD1LG2   PGM5   PHF24   PIGO   PLAA   PLGRKT   PLIN2   PLPP6   POLR1E   PRSS3   PSIP1   PTPRD   PUM3   RANBP6   RCL1   RECK   RFX3   RGP1   RIC1   RLN1   RLN2   RMRP   RNF38   RPP25L   RPS6   RRAGA   RUSC2   SAXO1   SH3GL2   SHB   SIGMAR1   SIT1   SLC1A1   SLC24A2   SLC25A51   SMARCA2   SMU1   SNAPC3   SPAG8   SPATA31A1   SPATA31A3   SPATA31A5   SPATA31A6   SPATA31A7   SPATA6L   SPINK4   STOML2   TAF1L   TEK   TESK1   TLN1   TMEM215   TMEM8B   TOMM5   TOPORS   TPD52L3   TPM2   TRMT10B   TTC39B   TUSC1   TYRP1   UBAP1   UBAP2   UBE2R2   UHRF2   UNC13B   VCP   VLDLR   ZBTB5   ZCCHC7   ZDHHC21   ZNF658  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh379203,861 - 70,985,795CLINVAR
Cytogenetic Map99p24.3-q21.11CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13796161
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.