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Variant : CV161006 (GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1) Homo sapiens

Symbol: CV161006
Name: GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1
Condition: See cases [RCV000139979]
Clinical Significance: pathogenic
Last Evaluated: 03/26/2013
Review Status: classified by 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   FAM199X   GLA   GPRASP1   GPRASP2   H2BW1   H2BW2   HNRNPH2   IL1RAPL2   LINC00630   LINC02589   MORF4L2   MORF4L2-AS1   NOX1   NXF2   NXF2B   NXF3   NXF5   PCDH19   PLP1   RAB40A   RAB40AL   RAB9B   RPA4   RPL36A   RPL36A-HNRNPH2   SLC25A53   SRPX2   SYTL4   TAF7L   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X1   TCP11X2   TIMM8A   TMEM31   TMEM35A   TMSB15A   TMSB15B   TMSB15B-AS1   TNMD   TRMT2B   TSPAN6   XKRX   ZCCHC18   ZMAT1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_95823036)_(104957737_?)del
NC_000023.10:g.(?_95078035)_(104202418_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X95,823,036 - 104,957,737CLINVAR
GRCh37X95,078,035 - 104,202,418CLINVAR
Build 36X94,964,691 - 104,089,074CLINVAR
Cytogenetic MapXXq21.33-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487509
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
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.