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Variant : CV158213 (GRCh38/hg38 Xq28(chrX:153667032-154394658)x2) Homo sapiens

Symbol: CV158213
Name: GRCh38/hg38 Xq28(chrX:153667032-154394658)x2
Condition: See cases [RCV000137536]
Clinical Significance: pathogenic
Last Evaluated: 02/18/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCD1   ARHGAP4   AVPR2   BCAP31   EMD   FLNA   HCFC1   HCFC1-AS1   IDH3G   IRAK1   L1CAM   MECP2   MIR3202-1   MIR3202-2   MIR718   NAA10   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   PDZD4   PLXNB3   PNCK   RENBP   SLC6A8   SRPK3   SSR4   TEX28   TKTL1   TMEM187  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153667032)_(154394658_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X153,667,032 - 154,394,658CLINVAR
Build 36X152,585,681 - 153,276,194CLINVAR
Cytogenetic MapXXq28CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9485091
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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