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Variant : CV154088 (GRCh38/hg38 Xp21.1(chrX:32501716-32932295)x3) Homo sapiens

Symbol: CV154088
Name: GRCh38/hg38 Xp21.1(chrX:32501716-32932295)x3
Condition: See cases [RCV000133819]
Clinical Significance: pathogenic
Last Evaluated: 12/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DMD   MIR3915   MIR548F5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_32501716)_(32932295_?)dup
NC_000023.10:g.(?_32519833)_(32950412_?)dup
NC_000023.9:g.(?_32429754)_(32860333_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X32,501,716 - 32,932,295CLINVAR
GRCh37X32,519,833 - 32,950,412CLINVAR
Build 36X32,429,754 - 32,860,333CLINVAR
Cytogenetic MapXXp21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481404
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.