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

Variant : CV679569 (GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1) Homo sapiens

Symbol: CV679569
Name: GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1
Condition: Early Onset Neurological Disease Trait [RCV000993775]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ARMCX5   ARMCX5-GPRASP2   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   CLDN2   DNAAF6   ESX1   FAM199X   GPRASP1   GPRASP2   H2BW1   H2BW2   IL1RAPL2   MORC4   MORF4L2   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF5   PLP1   PWWP3B   RAB40A   RAB40AL   RAB9B   RADX   RBM41   RIPPLY1   RNF128   SERPINA7   SLC25A53   TBC1D8B   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X2   TEX13A   TMEM31   TMSB15A   TMSB15B   ZCCHC18   ZMAT1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh37X101,029,649 - 106,702,784CLINVAR
Cytogenetic MapXXq22.1-22.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 21067586
Created: 2020-02-11
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE



NHLBI Logo

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