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Variant : CV155200 (GRCh38/hg38 Xq28(chrX:154022039-154312841)x2) Homo sapiens

Symbol: CV155200
Name: GRCh38/hg38 Xq28(chrX:154022039-154312841)x2
Condition: See cases [RCV000134819]
Clinical Significance: pathogenic
Last Evaluated: 09/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: MECP2   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   TEX28   TKTL1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_154022039)_(154312841_?)dup
NC_000023.10:g.(?_153333946)_(153541192_?)dup
NC_000023.9:g.(?_152940684)_(153194386_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X154,022,039 - 154,312,841CLINVAR
GRCh37X153,333,946 - 153,541,192 (+)CLINVAR
Build 36X152,940,684 - 153,194,386CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482396
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-10-08
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.