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Variant : CV73559 (GRCh38/hg38 20p13(chr20:2595077-3004837)x3) Homo sapiens

Symbol: CV73559
Name: GRCh38/hg38 20p13(chr20:2595077-3004837)x3
Condition: Global developmental delay [RCV000052758]|See cases [RCV000052758]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: C20orf141   CPXM1   EBF4   IDH3B   MIR1292   NOP56   PCED1A   PTPRA   SNORA51   SNORD110   SNORD56   SNORD57   SNORD86   TMC2   TMEM239   VPS16  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_2595077)_(3004837_?)dup
NC_000020.10:g.(?_2575723)_(2985483_?)dup
NC_000020.9:g.(?_2523723)_(2933483_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38202,595,077 - 3,004,837CLINVAR
GRCh37202,575,723 - 2,985,483CLINVAR
Build 36202,523,723 - 2,933,483CLINVAR
Cytogenetic Map2020p13CLINVAR
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: 8619731
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.