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Variant : CV679565 (GRCh37/hg19 Xq22.2(chrX:102615641-103309503)x1) Homo sapiens

Symbol: CV679565
Name: GRCh37/hg19 Xq22.2(chrX:102615641-103309503)x1
Condition: Early Onset Neurological Disease Trait [RCV000993771]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: BEX3   H2BW1   H2BW2   MORF4L2   PLP1   RAB40A   RAB9B   TCEAL1   TCEAL3   TCEAL4   TMEM31   TMSB15B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh37X102,615,641 - 103,309,503CLINVAR
Cytogenetic MapXXq22.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 21067573
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.