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Variant : CV382859 (GRCh37/hg19 Xq28(chrX:152970475-153524157)x2) Homo sapiens

Symbol: CV382859
Name: GRCh37/hg19 Xq28(chrX:152970475-153524157)x2
Condition: See cases [RCV000447506]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCD1   ARHGAP4   AVPR2   BCAP31   HCFC1   IDH3G   IRAK1   L1CAM   MECP2   NAA10   OPN1LW   OPN1MW   OPN1MW2   PDZD4   PLXNB3   RENBP   SRPK3   SSR4   TEX28   TKTL1   TMEM187  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X152,970,475 - 153,524,157CLINVAR
Cytogenetic MapXXq28CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852222
Created: 2017-04-11
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.