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Variant : CV73332 (GRCh38/hg38 Xq28(chrX:153590730-154380801)x2) Homo sapiens

Symbol: CV73332
Name: GRCh38/hg38 Xq28(chrX:153590730-154380801)x2
Condition: Epicanthus [RCV000052522]|See cases [RCV000052522]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCD1   ARHGAP4   AVPR2   BCAP31   CCNQ   DUSP9   EMD   FLNA   HCFC1   HCFC1-AS1   IDH3G   IRAK1   L1CAM   MECP2   MIR3202-1   MIR3202-2   MIR718   NAA10   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   PDZD4   PLXNB3   PNCK   RENBP   SLC6A8   SRPK3   SSR4   TEX28   TKTL1   TMEM187  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153590730)_(154380801_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X153,590,730 - 154,380,801CLINVAR
GRCh37X152,864,376 - 153,609,161CLINVAR
Build 36X152,509,382 - 153,262,355CLINVAR
Cytogenetic MapXXq28CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619500
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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