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Variant : CV556072 (GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3) Homo sapiens

Symbol: CV556072
Name: GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3
Condition: not provided [RCV000684377]
Clinical Significance: pathogenic
Last Evaluated: 02/19/2018
Review Status: no assertion criteria provided
Related Genes: ACTRT1   ADGRG4   AIFM1   AKAP14   APLN   ARHGAP36   ARHGEF6   ATP11C   ATP1B4   BCORL1   BRS3   C1GALT1C1   CCDC160   CD40LG   CDR1   CT45A1   CT45A2   CT45A3   CT45A5   CT45A6   CT47A1   CT47A10   CT47A11   CT47A12   CT47A2   CT47A3   CT47A4   CT47A5   CT47A6   CT47A7   CT47A8   CT47A9   CT47B1   CT55   CUL4B   CXorf56   CXorf66   DCAF12L1   DCAF12L2   ELF4   ENOX2   F9   FAM122B   FAM122C   FGF13   FHL1   FRMD7   GLUD2   GPC3   GPC4   GPR101   GPR119   GRIA3   HPRT1   HS6ST2   HTATSF1   IGSF1   INTS6L   KIAA1210   LAMP2   LONRF3   MAP7D3   MBNL3   MCF2   MCTS1   MIR106A   MIR19B2   MIR424   MIR503   MMGT1   MOSPD1   NDUFA1   NKAP   NKRF   OCRL   OR13H1   PGRMC1   PHF6   PLAC1   PRR32   RAB33A   RAP2C   RBMX   RBMX2   RHOXF1   RHOXF2   RHOXF2B   RNF113A   RPL39   RTL8A   RTL8B   RTL8C   SAGE1   SASH3   SEPTIN6   SH2D1A   SLC25A14   SLC25A43   SLC25A5   SLC9A6   SMARCA1   SMIM10   SOWAHD   SOX3   SPANXB1   STAG2   STK26   TENM1   TFDP3   THOC2   TMEM255A   UBE2A   UPF3B   USP26   UTP14A   VGLL1   XIAP   XPNPEP2   ZBTB33   ZDHHC9   ZIC3   ZNF280C   ZNF449   ZNF75D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X117,998,704 - 140,159,954CLINVAR
Cytogenetic MapXXq24-27.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13798611
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.