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Variant : CV679568 (GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1) Homo sapiens

Symbol: CV679568
Name: GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1
Condition: Early Onset Neurological Disease Trait [RCV000993774]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: BEX1   BEX2   BEX3   BEX4   ESX1   FAM199X   H2BW1   H2BW2   IL1RAPL2   MORF4L2   NRK   NXF3   PLP1   RAB40A   RAB40AL   RAB9B   SERPINA7   SLC25A53   TCEAL1   TCEAL3   TCEAL4   TCEAL5   TCEAL7   TCEAL8   TCEAL9   TEX13A   TMEM31   TMSB15B   ZCCHC18  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh37X102,066,350 - 105,409,822CLINVAR
Cytogenetic MapXXq22.1-22.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 21067582
Created: 2020-02-11
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.