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Variant : CV72516 (GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1) Homo sapiens

Symbol: CV72516
Name: GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051663]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051663]|See cases [RCV000051663]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AKAP4   BMP15   CCNB3   CENPVL1   CENPVL2   CENPVL3   CLCN5   DGKK   EZHIP   FAM156A   FAM156B   GPR173   GSPT2   HSD17B10   HUWE1   IQSEC2   KANTR   KDM5C   LINC01284   LINC01496   MAGED1   MAGED4   MAGED4B   MIR6857   MIR6894   MIR6895   MIR8088   MIR98   MIRLET7F2   NUDT10   NUDT11   PHF8   RIBC1   SHROOM4   SMC1A   SNORA11D   SNORA11E   SPANXN5   SSX2   SSX2B   SSX7   TSPYL2   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_50086006)_(54030240_?)del
NC_000023.10:g.(?_49850663)_(53957191_?)del
NC_000023.9:g.(?_49737403)_(54073398_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X50,086,006 - 54,030,240CLINVAR
GRCh37X49,850,663 - 53,957,191CLINVAR
Build 36X49,737,403 - 54,073,398CLINVAR
Cytogenetic MapXXp11.23-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618676
Created: 2014-05-13
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.