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Variant : CV162459 (GRCh38/hg38 Xq28(chrX:154017291-154394658)x3) Homo sapiens

Symbol: CV162459
Name: GRCh38/hg38 Xq28(chrX:154017291-154394658)x3
Condition: See cases [RCV000141234]
Clinical Significance: pathogenic
Last Evaluated: 04/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: EMD   FLNA   IRAK1   MECP2   MIR718   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.(?_154017291)_(154394658_?)dup
NC_000023.10:g.(?_153333946)_(153623000_?)dup
NC_000023.9:g.(?_152935936)_(153276194_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X154,017,291 - 154,394,658CLINVAR
GRCh37X153,333,946 - 153,623,000 (+)CLINVAR
Build 36X152,935,936 - 153,276,194CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488761
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-10-15
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.