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Variant : CV158838 (GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3) Homo sapiens

Symbol: CV158838
Name: GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3
Condition: See cases [RCV000138145]
Clinical Significance: pathogenic
Last Evaluated: 02/10/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACTRT1   ADGRG4   AIFM1   AKAP14   APLN   ARHGAP36   ARHGEF6   ATP11C   ATP1B4   BCORL1   BRS3   C1GALT1C1   CCDC160   CD40LG   CT45A1   CT45A10   CT45A2   CT45A3   CT45A5   CT45A6   CT45A7   CT45A8   CT45A9   CT47A1   CT47A10   CT47A11   CT47A12   CT47A2   CT47A3   CT47A4   CT47A5   CT47A6   CT47A7   CT47A8   CT47A9   CT47B1   CT55   CUL4B   CXorf56   CXorf66   DCAF12L1   DCAF12L2   DOCK11   ELF4   ENOX2   ETDA   ETDB   ETDC   F9   FAM122B   FAM122C   FGF13   FGF13-AS1   FHL1   FIRRE   FRMD7   GLUD2   GPC3   GPC3-AS1   GPC4   GPR101   GPR119   GRIA3   HPRT1   HS6ST2   HS6ST2-AS1   HTATSF1   IGSF1   IL13RA1   INTS6L   INTS6L-AS1   KIAA1210   KLHL13   LAMP2   LINC00629   LINC00892   LINC01201   LINC01285   LINC01402   LINC02243   LONRF3   MAP7D3   MBNL3   MCF2   MCTS1   MIR106A   MIR1277   MIR18B   MIR19B2   MIR20B   MIR363   MIR3672   MIR424   MIR450A1   MIR450A2   MIR450B   MIR503   MIR503HG   MIR504   MIR505   MIR542   MIR766   MIR92A2   MIR934   MMGT1   MOSPD1   NDUFA1   NKAP   NKRF   OCRL   OR13H1   PGRMC1   PHF6   PLAC1   PRR32   RAB33A   RAP2C   RAP2C-AS1   RBMX   RBMX2   RHOXF1   RHOXF1-AS1   RHOXF2   RHOXF2B   RNF113A   RPL39   RTL8A   RTL8B   RTL8C   SAGE1   SASH3   SEPTIN6   SH2D1A   SLC25A14   SLC25A43   SLC25A5   SLC25A5-AS1   SLC9A6   SMARCA1   SMIM10   SMIM10L2A   SMIM10L2B   SMIM10L2B-AS1   SNORA69   SNORD61   SOWAHD   STAG2   STK26   TENM1   TEX13C   TEX13D   TFDP3   THOC2   TMEM255A   UBE2A   UPF3B   USP26   UTP14A   VGLL1   WDR44   XIAP   XPNPEP2   ZBTB33   ZCCHC12   ZDHHC9   ZIC3   ZNF280C   ZNF449   ZNF75D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_117260292)_(140201321_?)dup
NC_000023.10:g.(?_116394255)_(139283477_?)dup
NC_000023.9:g.(?_116278283)_(139111143_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X117,260,292 - 140,201,321CLINVAR
GRCh37X116,394,255 - 139,283,477CLINVAR
Build 36X116,278,283 - 139,111,143CLINVAR
Cytogenetic MapXXq23-27.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485694
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.