Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV159791 (GRCh38/hg38 Xp22.33(chrX:1718254-3700497)x0) Homo sapiens

Symbol: CV159791
Name: GRCh38/hg38 Xp22.33(chrX:1718254-3700497)x0
Condition: See cases [RCV000138953]
Clinical Significance: pathogenic
Last Evaluated: 06/01/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARSD   ARSD-AS1   ARSF   ARSH   ARSL   CD99   DHRSX   GYG2   LINC00102   LINC01546   MIR6089   MXRA5   PRKX   PRKX-AS1   SNORA48B   XG   ZBED1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_1718254)_(3700497_?)del
NC_000023.10:g.(?_1837147)_(3618538_?)del
NC_000023.9:g.(?_1797147)_(3628538_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X1,718,254 - 3,700,497CLINVAR
GRCh37X1,837,147 - 3,618,538CLINVAR
Build 36X1,797,147 - 3,628,538CLINVAR
Cytogenetic MapXXp22.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486485
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.