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Variant : CV162770 (GRCh38/hg38 Xq27.2-28(chrX:142602008-149482800)x1) Homo sapiens

Symbol: CV162770
Name: GRCh38/hg38 Xq27.2-28(chrX:142602008-149482800)x1
Condition: See cases [RCV000141518]
Clinical Significance: pathogenic
Last Evaluated: 02/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AFF2   CXorf51A   CXorf51B   FMR1   FMR1-AS1   FMR1NB   IDS   MIR506   MIR507   MIR508   MIR509-1   MIR509-2   MIR509-3   MIR510   MIR513A1   MIR513A2   MIR513B   MIR513C   MIR514A1   MIR514A2   MIR514A3   MIR514B   MIR888   MIR890   MIR891A   MIR891B   MIR892A   MIR892B   MIR892C   SLITRK2   SLITRK4   SPANXN1   SPANXN2   SPANXN3   SPANXN4   UBE2NL  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_142602008)_(149482800_?)del
NC_000023.10:g.(?_141689794)_(147944759_?)del
NC_000023.9:g.(?_141517460)_(148372236_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X142,602,008 - 149,482,800CLINVAR
GRCh37X141,689,794 - 147,944,759 (+)CLINVAR
Build 36X141,517,460 - 148,372,236CLINVAR
Cytogenetic MapXXq27.2-28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489043
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.