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Variant : CV155330 (GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3) Homo sapiens

Symbol: CV155330
Name: GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3
Condition: See cases [RCV000134920]
Clinical Significance: pathogenic
Last Evaluated: 01/14/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCA2   ABL1   ABO   AC006450.3   AC174065.1   ADAMTS13   ADAMTSL2   ADGRD2   AGPAT2   AIF1L   AJM1   AK1   AK8   AL161452.1   AL161785.1   AL162586.1   AL162724.2   AL354761.1   AL441992.2   AL445931.1   AL590226.1   AL590627.1   AL772363.1   ANAPC2   ANGPTL2   ARPC5L   ARRDC1   ARRDC1-AS1   ASB6   ASS1   BARHL1   BRD3   BRD3OS   C5   C8G   C9orf106   C9orf116   C9orf139   C9orf16   C9orf163   C9orf50   C9orf62   C9orf78   CACFD1   CACNA1B   CAMSAP1   CARD9   CCDC183   CCDC183-AS1   CCDC187   CDK9   CEL   CERCAM   CFAP157   CFAP77   CIZ1   CLIC3   CNTRL   COL5A1   COL5A1-AS1   COQ4   CRAT   CRB2   CYSRT1   DAB2IP   DBH   DBH-AS1   DDX31   DENND1A   DIPK1B   DNLZ   DNM1   DOLK   DOLPP1   DPH7   DPM2   DPP7   DYNC2I2   EDF1   EGFL7   EHMT1   ENDOG   ENG   ENTPD2   ENTPD8   ENTR1   EXD3   EXOSC2   FAM102A   FAM163B   FAM166A   FAM78A   FBXW5   FCN1   FCN2   FIBCD1   FNBP1   FPGS   FUBP3   FUT7   GAPVD1   GARNL3   GBGT1   GFI1B   GGTA1   GLE1   GLT6D1   GOLGA1   GOLGA2   GPR107   GPR21   GPRACR   GPSM1   GRIN1   GSN   GSN-AS1   GTF3C4   GTF3C5   HMCN2   HSPA5   IER5L   INPP5E   KCNT1   KYAT1   LAMC3   LCN1   LCN10   LCN12   LCN15   LCN2   LCN6   LCN8   LCN9   LCNL1   LHX2   LHX3   LHX6   LINC00963   LINC01451   LINC01502   LINC01503   LINC02247   LINC02692   LINC02846   LMX1B   LRRC26   LRRC8A   LRSAM1   MAMDC4   MAN1B1   MAN1B1-DT   MAPKAP1   MED22   MED27   MIGA2   MIR12126   MIR126   MIR181A2   MIR181A2HG   MIR181B2   MIR199B   MIR219A2   MIR219B   MIR2861   MIR3154   MIR3621   MIR3689A   MIR3689B   MIR3689C   MIR3689D1   MIR3689D2   MIR3689E   MIR3689F   MIR3911   MIR3960   MIR4292   MIR4478   MIR4479   MIR4669   MIR4672   MIR4673   MIR4674   MIR548AW   MIR600   MIR600HG   MIR601   MIR602   MIR6722   MIR6855   MIR6856   MIR6877   MIR7114   MIR7150   MORN5   MRPL41   MRPS2   MRRF   MVB12B   MYMK   NACC2   NAIF1   NALT1   NCS1   NDOR1   NDUFA8   NEK6   NELFB   NIBAN2   NOTCH1   NOXA1   NPDC1   NR5A1   NR6A1   NRARP   NRON   NSMF   NTMT1   NTNG2   NUP188   NUP214   OBP2A   OBP2B   ODF2   OLFM1   OLFML2A   OR1B1   OR1J1   OR1J2   OR1J4   OR1K1   OR1L1   OR1L3   OR1L4   OR1L6   OR1L8   OR1N1   OR1N2   OR1Q1   OR5C1   PAEP   PAXX   PBX3   PDCL   PHPT1   PHYHD1   PIP5KL1   PKN3   PLPP7   PMPCA   PNPLA7   POMT1   PPP1R26   PPP1R26-AS1   PPP6C   PRDM12   PRRC2B   PRRT1B   PRRX2   PRRX2-AS1   PSMB7   PTGDS   PTGES   PTGES2   PTGES2-AS1   PTGS1   PTPA   PTRH1   QRFP   QSOX2   RAB14   RABEPK   RABGAP1   RABL6   RALGDS   RALGPS1   RAPGEF1   RBM18   RC3H2   REXO4   RNF208   RNF224   RNU6ATAC   RPL12   RPL35   RPL7A   RXRA   SAPCD2   SARDH   SCAI   SEC16A   SET   SETX   SH2D3C   SH3GLB2   SLC25A25   SLC25A25-AS1   SLC27A4   SLC2A6   SLC2A8   SLC34A3   SNAPC4   SNHG7   SNORA17A   SNORA17B   SNORA65   SNORD141A   SNORD24   SNORD36A   SNORD36B   SNORD36C   SNORD62A   SNORD62B   SNORD90   SOHLH1   SPACA9   SPOUT1   SPTAN1   SSNA1   ST6GALNAC4   ST6GALNAC6   STKLD1   STOM   STPG3   STPG3-AS1   STRBP   STXBP1   SURF1   SURF2   SURF4   SURF6   SWI5   TBC1D13   TMEM141   TMEM203   TMEM210   TMEM250   TOR1A   TOR1B   TOR2A   TOR4A   TPRN   TRAF2   TRR-TCT3-1   TRUB2   TSC1   TTC16   TTF1   TTLL11   TTLL11-IT1   TUBB4B   UAP1L1   UBAC1   UCK1   URM1   USP20   VAV2   WDR38   WDR5   ZBTB26   ZBTB34   ZBTB43   ZBTB6   ZDHHC12   ZER1   ZMYND19   ZNF79  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_121073102)_(138179445_?)dup
NC_000009.11:g.(?_123835380)_(141073897_?)dup
NC_000009.10:g.(?_122875201)_(140193718_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389121,073,102 - 138,179,445CLINVAR
GRCh379123,835,380 - 141,073,897CLINVAR
Build 369122,875,201 - 140,193,718CLINVAR
Cytogenetic Map99q33.2-34.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9482493
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.