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Variant : CV554855 (GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3) Homo sapiens

Symbol: CV554855
Name: GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3
Condition: not provided [RCV000683160]
Clinical Significance: pathogenic
Last Evaluated: 05/10/2018
Review Status: no assertion criteria provided
Related Genes: ABCA2   ABO   ADAMTS13   ADAMTSL2   AGPAT2   AJM1   AK8   ANAPC2   ARRDC1   BARHL1   BRD3   C8G   C9orf116   C9orf139   C9orf163   C9orf62   CACFD1   CACNA1B   CAMSAP1   CARD9   CCDC183   CEL   CFAP77   CLIC3   COL5A1   CYSRT1   DBH   DDX31   DIPK1B   DNLZ   DPH7   DPP7   EDF1   EGFL7   EHMT1   ENTPD2   ENTPD8   ENTR1   EXD3   FAM163B   FAM166A   FBXW5   FCN1   FCN2   FUT7   GBGT1   GFI1B   GLT6D1   GPSM1   GRIN1   GTF3C4   GTF3C5   INPP5E   KCNT1   LCN1   LCN10   LCN12   LCN15   LCN6   LCN8   LCN9   LCNL1   LHX3   LRRC26   MAMDC4   MAN1B1   MED22   MIR126   MRPL41   MRPS2   MYMK   NACC2   NDOR1   NELFB   NOTCH1   NOXA1   NPDC1   NRARP   NSMF   NTNG2   OBP2A   OBP2B   OLFM1   PAEP   PAXX   PHPT1   PMPCA   PNPLA7   PPP1R26   PTGDS   QSOX2   RABL6   RALGDS   REXO4   RNF208   RNF224   RNU6ATAC   RPL7A   RXRA   SAPCD2   SARDH   SEC16A   SETX   SLC2A6   SLC34A3   SNAPC4   SNHG7   SOHLH1   SPACA9   SSNA1   STKLD1   STPG3   SURF1   SURF2   SURF4   SURF6   TMEM141   TMEM203   TMEM210   TMEM250   TOR4A   TPRN   TRAF2   TSC1   TTF1   TUBB4B   UAP1L1   UBAC1   VAV2   WDR5   ZMYND19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh379135,105,971 - 141,020,389CLINVAR
Cytogenetic Map99q34.13-34.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13796215
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.