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Variant : CV248098 (GRCh37/hg19 Xq28(chrX:152993910-153555804)x2) Homo sapiens

Symbol: CV248098
Name: GRCh37/hg19 Xq28(chrX:152993910-153555804)x2
Condition: See cases [RCV000240396]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ABCD1   ARHGAP4   AVPR2   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
GRCh37X152,993,910 - 153,555,804CLINVAR
Cytogenetic MapXXq28CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541799
Created: 2016-10-11
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.