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Variant : CV72514 (GRCh38/hg38 5p15.33(chr5:316478-937457)x3) Homo sapiens

Symbol: CV72514
Name: GRCh38/hg38 5p15.33(chr5:316478-937457)x3
Condition: Global developmental delay [RCV000051661]|See cases [RCV000051661]
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: AHRR   BRD9   CEP72   EXOC3   EXOC3-AS1   MIR4456   SLC9A3   SLC9A3-AS1   TPPP   TRIP13   ZDHHC11   ZDHHC11B  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_316478)_(937457_?)dup
Human AssemblyChrPosition (strand)Source
GRCh385316,478 - 937,457CLINVAR
GRCh375316,593 - 937,572CLINVAR
Build 365369,593 - 990,572CLINVAR
Cytogenetic Map55p15.33CLINVAR
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: 8618674
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.