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Variant : CV163534 (GRCh38/hg38 Xq27.3(chrX:143385453-144104512)x3) Homo sapiens

Symbol: CV163534
Name: GRCh38/hg38 Xq27.3(chrX:143385453-144104512)x3
Condition: See cases [RCV000142049]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 02/01/2016
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SLITRK4   SPANXN2   SPANXN3   UBE2NL  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_143385453)_(144104512_?)dup
NC_000023.10:g.(?_142473246)_(143187618_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X143,385,453 - 144,104,512CLINVAR
GRCh37X142,473,246 - 143,187,618CLINVAR
Build 36X142,300,912 - 143,015,292CLINVAR
Cytogenetic MapXXq27.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489569
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-06
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.