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Variant : CV161598 (GRCh38/hg38 Xq28(chrX:153451351-154230630)x2) Homo sapiens

Symbol: CV161598
Name: GRCh38/hg38 Xq28(chrX:153451351-154230630)x2
Condition: See cases [RCV000140532]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCD1   ARHGAP4   ATP2B3   AVPR2   BCAP31   BGN   CCNQ   DUSP9   HAUS7   HCFC1   HCFC1-AS1   IDH3G   IRAK1   L1CAM   MECP2   MIR3202-1   MIR3202-2   MIR718   NAA10   OPN1LW   OPN1MW   OPN1MW2   PDZD4   PLXNB3   PNCK   RENBP   SLC6A8   SRPK3   SSR4   TMEM187  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153451351)_(154230630_?)dup
NC_000023.10:g.(?_152716809)_(153496099_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,451,351 - 154,230,630CLINVAR
GRCh37X152,716,809 - 153,496,099CLINVAR
Build 36X152,370,003 - 153,149,293CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488062
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.