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Variant : CV157099 (GRCh38/hg38 Xp21.2-21.1(chrX:30093911-34060667)x0) Homo sapiens

Symbol: CV157099
Name: GRCh38/hg38 Xp21.2-21.1(chrX:30093911-34060667)x0
Condition: See cases [RCV000136548]
Clinical Significance: pathogenic|likely benign
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CXorf21   DMD   FTHL17   GK   MAGEB1   MAGEB2   MAGEB3   MAGEB4   MIR3915   MIR548F5   NR0B1   TAB3   TAB3-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_30093911)_(34060667_?)del
NC_000023.10:g.(?_30112028)_(34078784_?)del
NC_000023.9:g.(?_30021949)_(33988705_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X30,093,911 - 34,060,667CLINVAR
GRCh37X30,112,028 - 34,078,784CLINVAR
Build 36X30,021,949 - 33,988,705CLINVAR
Cytogenetic MapXXp21.2-21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484109
Created: 2014-09-09
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.