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Variant : CV165452 (GRCh38/hg38 Xp11.22(chrX:51707794-53229764)x0) Homo sapiens

Symbol: CV165452
Name: GRCh38/hg38 Xp11.22(chrX:51707794-53229764)x0
Condition: See cases [RCV000143765]
Clinical Significance: pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CENPVL1   FAM156A   FAM156B   GPR173   GSPT2   IQSEC2   KANTR   KDM5C   MAGED1   MAGED4   MAGED4B   MIR6894   MIR6895   MIR8088   SNORA11D   SNORA11E   SPANXN5   SSX2   SSX2B   SSX7   TSPYL2   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_51707794)_(53229764_?)del
NC_000023.10:g.(?_51450890)_(53258946_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X51,707,794 - 53,229,764CLINVAR
GRCh37X51,450,890 - 53,258,946CLINVAR
Build 36X51,467,630 - 53,275,671CLINVAR
Cytogenetic MapXXp11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9491363
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
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.