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Variant : CV72582 (GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1) Homo sapiens

Symbol: CV72582
Name: GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051729]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051729]|See cases [RCV000051729]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCD1   ACTRT1   ADGRG4   AFF2   AIFM1   APLN   ARHGAP36   ARHGAP4   ARHGEF6   ATP11C   ATP2B3   ATP6AP1   AVPR2   BCAP31   BCORL1   BGN   BRCC3   BRS3   CCDC160   CCNQ   CD40LG   CD99L2   CDR1   CETN2   CLIC2   CMC4   CNGA2   CSAG1   CSAG2   CSAG3   CT45A1   CT45A10   CT45A2   CT45A3   CT45A5   CT45A6   CT45A7   CT45A8   CT45A9   CT55   CTAG1A   CTAG1B   CTAG2   CXorf51A   CXorf51B   CXorf66   DCAF12L1   DKC1   DNASE1L1   DUSP9   ELF4   EMD   ENOX2   EOLA1   EOLA2   ETDA   ETDB   ETDC   F8   F8A1   F8A2   F8A3   F9   FAM122B   FAM122C   FAM223A   FAM223B   FAM3A   FAM50A   FATE1   FGF13   FGF13-AS1   FHL1   FIRRE   FLNA   FMR1   FMR1-AS1   FMR1NB   FRMD7   FUNDC2   G6PD   GAB3   GABRA3   GABRE   GABRQ   GDI1   GPC3   GPC3-AS1   GPC4   GPR101   GPR119   GPR50   GPR50-AS1   H2AB1   H2AB2   H2AB3   HAUS7   HCFC1   HCFC1-AS1   HMGB3   HPRT1   HS6ST2   HS6ST2-AS1   HSFX1   HSFX2   HSFX3   HSFX4   HTATSF1   IDH3G   IDS   IGSF1   IKBKG   INTS6L   INTS6L-AS1   IRAK1   L1CAM   LAGE3   LDOC1   LINC00629   LINC00632   LINC00850   LINC00892   LINC00893   LINC00894   LINC01201   LINC02243   MAGEA1   MAGEA10   MAGEA10-MAGEA5   MAGEA11   MAGEA12   MAGEA2   MAGEA2B   MAGEA3   MAGEA4   MAGEA4-AS1   MAGEA5   MAGEA6   MAGEA8   MAGEA8-AS1   MAGEA9   MAGEA9B   MAGEC1   MAGEC2   MAGEC3   MAMLD1   MAP7D3   MBNL3   MCF2   MECP2   MIR105-1   MIR105-2   MIR106A   MIR1184-1   MIR1184-2   MIR1184-3   MIR12129   MIR18B   MIR19B2   MIR20B   MIR2114   MIR224   MIR3202-1   MIR3202-2   MIR320D2   MIR363   MIR424   MIR4330   MIR450A1   MIR450A2   MIR450B   MIR452   MIR503   MIR503HG   MIR504   MIR505   MIR506   MIR507   MIR508   MIR509-1   MIR509-2   MIR509-3   MIR510   MIR513A1   MIR513A2   MIR513B   MIR513C   MIR514A1   MIR514A2   MIR514A3   MIR514B   MIR542   MIR664B   MIR6858   MIR718   MIR767   MIR888   MIR890   MIR891A   MIR891B   MIR892A   MIR892B   MIR892C   MIR92A2   MIR934   MMGT1   MOSPD1   MPP1   MTCP1   MTM1   MTMR1   NAA10   NSDHL   OCRL   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   OR13H1   PASD1   PDZD4   PHF6   PLAC1   PLXNA3   PLXNB3   PNCK   PNMA3   PNMA5   PNMA6A   PNMA6E   PNMA6F   PRR32   PRRG3   RAB33A   RAB39B   RAP2C   RAP2C-AS1   RBMX   RBMX2   RENBP   RPL10   RTL8A   RTL8B   RTL8C   SAGE1   SASH3   SLC10A3   SLC25A14   SLC6A8   SLC9A6   SLITRK2   SLITRK4   SMARCA1   SMIM10   SMIM10L2A   SMIM10L2B   SMIM10L2B-AS1   SMIM9   SNORA36A   SNORA56   SNORA70   SNORD61   SOX3   SPANXA1   SPANXA2   SPANXA2-OT1   SPANXB1   SPANXC   SPANXD   SPANXN1   SPANXN2   SPANXN3   SPANXN4   SPRY3   SRPK3   SSR4   STK26   TAZ   TEX28   TFDP3   TKTL1   TMEM185A   TMEM187   TMLHE   TMLHE-AS1   TREX2   UBE2NL   UBL4A   USP26   UTP14A   VAMP7   VBP1   VGLL1   VMA21   XPNPEP2   ZDHHC9   ZFP92   ZIC3   ZNF185   ZNF275   ZNF280C   ZNF449   ZNF75D  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_126537861)_(155996431_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X126,537,861 - 155,996,431CLINVAR
GRCh37X125,671,844 - 155,226,096CLINVAR
Build 36X125,499,525 - 154,879,290CLINVAR
Cytogenetic MapXXq25-28CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8618742
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.