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Variant : CV73212 (GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3) Homo sapiens

Symbol: CV73212
Name: GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3
Condition: Global developmental delay [RCV000052392]|See cases [RCV000052392]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALAS2   APEX2   CENPVL1   CENPVL2   FAAH2   FAM104B   FAM120C   FAM156A   FAM156B   FGD1   FOXR2   GNL3L   GPR173   GSPT2   HSD17B10   HUWE1   IQSEC2   ITIH6   KANTR   KDM5C   KLF8   MAGED1   MAGED2   MAGED4   MAGED4B   MAGEH1   MIR4536-1   MIR4536-2   MIR6857   MIR6894   MIR6895   MIR8088   MIR98   MIRLET7F2   MTRNR2L10   NBDY   NLRP2B   PAGE2   PAGE2B   PAGE3   PAGE5   PFKFB1   PHF8   RIBC1   RRAGB   SMC1A   SNORA109   SNORA11   SNORA11D   SNORA11E   SNORA11G   SPANXN5   SPIN2A   SPIN2B   SPIN3   SSX2   SSX2B   SSX7   TRO   TSPYL2   TSR2   UBQLN2   USP51   WNK3   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5   ZXDA   ZXDB  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_51664377)_(58055036_?)dup
NC_000023.10:g.(?_51407309)_(58081470_?)dup
NC_000023.9:g.(?_51424049)_(58098195_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X51,664,377 - 58,055,036CLINVAR
GRCh37X51,407,309 - 58,081,470CLINVAR
Build 36X51,424,049 - 58,098,195CLINVAR
Cytogenetic MapXXp11.22-11.21CLINVAR
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: 8619380
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.