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Variant : CV73692 (GRCh38/hg38 3p26.3(chr3:63843-1209209)x3) Homo sapiens

Symbol: CV73692
Name: GRCh38/hg38 3p26.3(chr3:63843-1209209)x3
Condition: Global developmental delay [RCV000052895]|See cases [RCV000052895]
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: CHL1   CHL1-AS1   CHL1-AS2   CNTN6   LINC01266  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_63843)_(1209209_?)dup
NC_000003.11:g.(?_105526)_(1250893_?)dup
NC_000003.10:g.(?_80526)_(1225893_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38363,843 - 1,209,209CLINVAR
GRCh373105,526 - 1,250,893CLINVAR
Build 36380,526 - 1,225,893CLINVAR
Cytogenetic Map33p26.3CLINVAR
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: 8619865
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.