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Variant : CV608622 (GRCh37/hg19 Xq28(chrX:152806628-153626649)x2) Homo sapiens

Symbol: CV608622
Name: GRCh37/hg19 Xq28(chrX:152806628-153626649)x2
Condition: not provided [RCV000753922]
Clinical Significance: pathogenic
Last Evaluated: 12/31/2011
Review Status: no assertion criteria provided
Related Genes: ABCD1   ARHGAP4   ATP2B3   AVPR2   BCAP31   CCNQ   DUSP9   EMD   FLNA   HCFC1   IDH3G   IRAK1   L1CAM   MECP2   NAA10   OPN1LW   OPN1MW   OPN1MW2   PDZD4   PLXNB3   PNCK   RENBP   RPL10   SLC6A8   SRPK3   SSR4   TEX28   TKTL1   TMEM187  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X152,806,628 - 153,626,649CLINVAR
Cytogenetic MapXXq28CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14350826
Created: 2019-02-12
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.