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Variant : CV161590 (GRCh38/hg38 Xq28(chrX:153813894-154383071)x2) Homo sapiens

Symbol: CV161590
Name: GRCh38/hg38 Xq28(chrX:153813894-154383071)x2
Condition: See cases [RCV000140524]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARHGAP4   AVPR2   EMD   FLNA   HCFC1   HCFC1-AS1   IRAK1   L1CAM   MECP2   MIR3202-1   MIR3202-2   MIR718   NAA10   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   PDZD4   RENBP   TEX28   TKTL1   TMEM187  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153813894)_(154383071_?)dup
NC_000023.10:g.(?_153079349)_(153611431_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,813,894 - 154,383,071CLINVAR
GRCh37X153,079,349 - 153,611,431CLINVAR
Build 36X152,732,543 - 153,264,625CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488054
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.