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Variant : CV159102 (GRCh38/hg38 Xq28(chrX:153727116-154555423)x2) Homo sapiens

Symbol: CV159102
Name: GRCh38/hg38 Xq28(chrX:153727116-154555423)x2
Condition: See cases [RCV000138393]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCD1   ARHGAP4   ATP6AP1   AVPR2   DNASE1L1   EMD   FAM3A   FAM50A   FLNA   G6PD   GDI1   HCFC1   HCFC1-AS1   IDH3G   IKBKG   IRAK1   L1CAM   LAGE3   MECP2   MIR3202-1   MIR3202-2   MIR6858   MIR718   NAA10   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   PDZD4   PLXNA3   PLXNB3   RENBP   RPL10   SLC10A3   SNORA70   SRPK3   SSR4   TAZ   TEX28   TKTL1   TMEM187   UBL4A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153727116)_(154555423_?)dup
NC_000023.10:g.(?_153333946)_(153783638_?)dup
NC_000023.9:g.(?_152645765)_(153436832_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,727,116 - 154,555,423CLINVAR
GRCh37X153,333,946 - 153,783,638 (+)CLINVAR
Build 36X152,645,765 - 153,436,832CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485941
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
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.