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Variant : CV381841 (GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3) Homo sapiens

Symbol: CV381841
Name: GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3
Condition: See cases [RCV000448784]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCA2   ABL1   ABO   ADAMTS13   ADAMTSL2   ADGRD2   AGPAT2   AIF1L   AJM1   AK1   AK8   ANAPC2   ANGPTL2   ARPC5L   ARRDC1   ASB6   ASS1   BARHL1   BRD3   C8G   C9orf106   C9orf116   C9orf139   C9orf16   C9orf163   C9orf50   C9orf62   C9orf78   CACFD1   CACNA1B   CAMSAP1   CARD9   CCDC183   CDK9   CEL   CERCAM   CFAP157   CFAP77   CIZ1   CLIC3   COL5A1   COQ4   CRAT   CRB2   CYSRT1   DBH   DDX31   DENND1A   DIPK1B   DNLZ   DNM1   DOLK   DOLPP1   DPH7   DPM2   DPP7   EDF1   EGFL7   EHMT1   ENDOG   ENG   ENTPD2   ENTPD8   ENTR1   EXD3   EXOSC2   FAM102A   FAM157B   FAM163B   FAM166A   FAM78A   FBXW5   FCN1   FCN2   FIBCD1   FNBP1   FPGS   FUBP3   FUT7   GAPVD1   GARNL3   GBGT1   GFI1B   GLE1   GLT6D1   GOLGA1   GOLGA2   GPR107   GPR21   GPSM1   GRIN1   GTF3C4   GTF3C5   HMCN2   HSPA5   IER5L   INPP5E   KCNT1   KYAT1   LAMC3   LCN1   LCN10   LCN12   LCN15   LCN2   LCN6   LCN8   LCN9   LCNL1   LHX2   LHX3   LHX6   LMX1B   LRRC26   LRRC8A   LRSAM1   MAMDC4   MAN1B1   MAPKAP1   MED22   MED27   MIGA2   MIR126   MIR181A2   MIR181A2HG   MIR181B2   MIR199B   MIR2861   MORN5   MRPL41   MRPS2   MRRF   MVB12B   MYMK   NACC2   NAIF1   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   PPP6C   PRDM12   PRRC2B   PRRX2   PSMB7   PTGDS   PTGES   PTGES2   PTGS1   PTPA   PTRH1   QRFP   QSOX2   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   SLC27A4   SLC2A6   SLC2A8   SLC34A3   SNAPC4   SNHG7   SOHLH1   SPACA9   SPOUT1   SPTAN1   SSNA1   ST6GALNAC4   ST6GALNAC6   STKLD1   STPG3   STRBP   STXBP1   SURF1   SURF2   SURF4   SURF6   SWI5   TBC1D13   TMEM141   TMEM203   TMEM210   TMEM250   TOR1A   TOR1B   TOR2A   TOR4A   TPRN   TRAF2   TRUB2   TSC1   TTC16   TTF1   TTLL11   TTLL11-IT1   TUBB4B   UAP1L1   UBAC1   UCK1   URM1   USP20   VAV2   WDR34   WDR38   WDR5   ZBTB26   ZBTB34   ZBTB43   ZBTB6   ZDHHC12   ZER1   ZMYND19   ZNF79  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh379124,642,754 - 141,146,461CLINVAR
Cytogenetic Map99q33.2-34.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853485
Created: 2017-04-11
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.