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Variant : CV556448 (GRCh37/hg19 Xq28(chrX:152941302-153438781)x3) Homo sapiens

Symbol: CV556448
Name: GRCh37/hg19 Xq28(chrX:152941302-153438781)x3
Condition: not provided [RCV000684739]
Clinical Significance: likely pathogenic
Last Evaluated: 01/18/2018
Review Status: no assertion criteria provided
Related Genes: ABCD1   ARHGAP4   AVPR2   BCAP31   HCFC1   IDH3G   IRAK1   L1CAM   MECP2   NAA10   OPN1LW   PDZD4   PLXNB3   RENBP   SLC6A8   SRPK3   SSR4   TMEM187  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X152,941,302 - 153,438,781CLINVAR
Cytogenetic MapXXq28CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13798981
Created: 2018-10-09
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.