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Variant : CV154026 (GRCh38/hg38 Xp22.33-22.32(chrX:2963899-5016927)x3) Homo sapiens

Symbol: CV154026
Name: GRCh38/hg38 Xp22.33-22.32(chrX:2963899-5016927)x3
Condition: See cases [RCV000133757]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARSF   ARSH   ARSL   LINC01546   MXRA5   PRKX   PRKX-AS1   SNORA48B   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_2963899)_(5016927_?)dup
NC_000023.10:g.(?_2881940)_(4934968_?)dup
NC_000023.9:g.(?_2891940)_(4944968_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X2,963,899 - 5,016,927CLINVAR
GRCh37X2,881,940 - 4,934,968CLINVAR
Build 36X2,891,940 - 4,944,968CLINVAR
Cytogenetic MapXXp22.33-22.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481342
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.