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Variant : CV154047 (GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3) Homo sapiens

Symbol: CV154047
Name: GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3
Condition: See cases [RCV000133778]
Clinical Significance: pathogenic
Last Evaluated: 02/28/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCA2   ABL1   ABO   ADAMTS13   ADAMTSL2   AGPAT2   AIF1L   AJM1   AK8   ANAPC2   ARRDC1   ARRDC1-AS1   BARHL1   BRD3   BRD3OS   C8G   C9orf116   C9orf139   C9orf163   C9orf62   CACFD1   CACNA1B   CAMSAP1   CARD9   CCDC183   CCDC183-AS1   CCDC187   CEL   CFAP77   CLIC3   COL5A1   COL5A1-AS1   CYSRT1   DBH   DBH-AS1   DDX31   DIPK1B   DNLZ   DPH7   DPP7   EDF1   EGFL7   EHMT1   ENTPD2   ENTPD8   ENTR1   EXD3   EXOSC2   FAM163B   FAM166A   FAM78A   FBXW5   FCN1   FCN2   FIBCD1   FUBP3   FUT7   GBGT1   GFI1B   GLT6D1   GPSM1   GRIN1   GTF3C4   GTF3C5   INPP5E   KCNT1   LAMC3   LCN1   LCN10   LCN12   LCN15   LCN6   LCN8   LCN9   LCNL1   LHX3   LINC01451   LINC01502   LINC02247   LINC02692   LINC02846   LRRC26   MAMDC4   MAN1B1   MAN1B1-DT   MED22   MED27   MIR126   MIR3621   MIR3689A   MIR3689B   MIR3689C   MIR3689D1   MIR3689D2   MIR3689E   MIR3689F   MIR4292   MIR4479   MIR4669   MIR4673   MIR4674   MIR548AW   MIR602   MIR6722   MIR6856   MIR6877   MIR7114   MRPL41   MRPS2   MYMK   NACC2   NALT1   NDOR1   NELFB   NOTCH1   NOXA1   NPDC1   NRARP   NSMF   NTNG2   NUP214   OBP2A   OBP2B   OLFM1   PAEP   PAXX   PHPT1   PLPP7   PMPCA   PNPLA7   POMT1   PPP1R26   PPP1R26-AS1   PRDM12   PRRC2B   PRRT1B   PTGDS   QRFP   QSOX2   RABL6   RALGDS   RAPGEF1   REXO4   RNF208   RNF224   RNU6ATAC   RPL7A   RXRA   SAPCD2   SARDH   SEC16A   SETX   SLC2A6   SLC34A3   SNAPC4   SNHG7   SNORA17A   SNORA17B   SNORD141A   SNORD24   SNORD36A   SNORD36B   SNORD36C   SNORD62A   SNORD62B   SOHLH1   SPACA9   SSNA1   STKLD1   STPG3   STPG3-AS1   SURF1   SURF2   SURF4   SURF6   TMEM141   TMEM203   TMEM210   TMEM250   TOR4A   TPRN   TRAF2   TSC1   TTF1   TUBB4B   UAP1L1   UBAC1   UCK1   VAV2   WDR5   ZMYND19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_130513207)_(138124532_?)dup
NC_000009.11:g.(?_133388594)_(141018984_?)dup
NC_000009.10:g.(?_132378415)_(140138805_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389130,513,207 - 138,124,532CLINVAR
GRCh379133,388,594 - 141,018,984CLINVAR
Build 369132,378,415 - 140,138,805CLINVAR
Cytogenetic Map99q34.11-34.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481363
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.