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Variant : CV73281 (GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2) Homo sapiens

Symbol: CV73281
Name: GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2
Condition: Global developmental delay [RCV000052469]|See cases [RCV000052469]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARHGEF6   ATP11C   CD40LG   CXorf66   F9   FGF13   FGF13-AS1   GPR101   LINC00892   MCF2   MIR504   MIR505   MIR934   RBMX   SNORD61   VGLL1   ZIC3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_136522136)_(140417943_?)dup
NC_000023.10:g.(?_135604295)_(139500108_?)dup
NC_000023.9:g.(?_135431961)_(139327774_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,522,136 - 140,417,943CLINVAR
GRCh37X135,604,295 - 139,500,108CLINVAR
Build 36X135,431,961 - 139,327,774CLINVAR
Cytogenetic MapXXq26.3-27.1CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619449
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.