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Variant : CV156327 (GRCh38/hg38 Xq28(chrX:153855152-154092314)x2) Homo sapiens

Symbol: CV156327
Name: GRCh38/hg38 Xq28(chrX:153855152-154092314)x2
Condition: See cases [RCV000135840]
Clinical Significance: pathogenic
Last Evaluated: 10/19/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARHGAP4   AVPR2   HCFC1   HCFC1-AS1   IRAK1   L1CAM   MECP2   MIR3202-1   MIR3202-2   MIR718   NAA10   RENBP   TMEM187  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153855152)_(154092314_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X153,855,152 - 154,092,314CLINVAR
Build 36X152,773,801 - 153,010,966CLINVAR
Cytogenetic MapXXq28CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9483406
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.