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Variant : CV164801 (GRCh38/hg38 Xq28(chrX:153861449-154140759)x2) Homo sapiens

Symbol: CV164801
Name: GRCh38/hg38 Xq28(chrX:153861449-154140759)x2
Condition: See cases [RCV000143114]
Clinical Significance: pathogenic
Last Evaluated: 11/14/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARHGAP4   AVPR2   HCFC1   HCFC1-AS1   IRAK1   L1CAM   MECP2   MIR3202-1   MIR3202-2   MIR718   NAA10   RENBP   TMEM187  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153861449)_(154140759_?)dup
NC_000023.9:g.(?_152780098)_(153059427_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,861,449 - 154,140,759CLINVAR
Build 36X152,780,098 - 153,059,427CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490712
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.