Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV73258 (GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3) Homo sapiens

Symbol: CV73258
Name: GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3
Condition: Specific learning disability [RCV000052440]|See cases [RCV000052440]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BTK   CENPI   CSTF2   DIAPH2   DIAPH2-AS1   DRP2   ESX1   FAM133A   FAM199X   GLA   GPRASP1   GPRASP2   H2BW1   H2BW2   HNRNPH2   IL1RAPL2   LINC00630   LINC02589   MIR548M   MORF4L2   MORF4L2-AS1   NAP1L3   NOX1   NRK   NXF2   NXF2B   NXF3   NXF5   PABPC5   PABPC5-AS1   PCDH11X   PCDH19   PLP1   PWWP3B   RAB40A   RAB40AL   RAB9B   RPA4   RPL36A   RPL36A-HNRNPH2   SERPINA7   SLC25A53   SRPX2   SYTL4   TAF7L   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X1   TCP11X2   TEX13A   TGIF2LX   TIMM8A   TMEM31   TMEM35A   TMSB15A   TMSB15B   TMSB15B-AS1   TNMD   TRMT2B   TSPAN6   XKRX   ZCCHC18   ZMAT1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_89372737)_(106174548_?)dup
NC_000023.10:g.(?_88627736)_(105418541_?)dup
NC_000023.9:g.(?_88514392)_(105305197_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X89,372,737 - 106,174,548CLINVAR
GRCh37X88,627,736 - 105,418,541CLINVAR
Build 36X88,514,392 - 105,305,197CLINVAR
Cytogenetic MapXXq21.31-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619426
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-06
Status: ACTIVE



NHLBI Logo

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