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Variant : CV72556 (GRCh38/hg38 5p14.3(chr5:19857388-20747378)x3) Homo sapiens

Symbol: CV72556
Name: GRCh38/hg38 5p14.3(chr5:19857388-20747378)x3
Condition: Global developmental delay [RCV000051703]|See cases [RCV000051703]
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: CDH18   CDH18-AS1   LINC02146   LINC02241  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_19857388)_(20747378_?)dup
NC_000005.9:g.(?_19857497)_(20747487_?)dup
NC_000005.8:g.(?_19893254)_(20783244_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38519,857,388 - 20,747,378CLINVAR
GRCh37519,857,497 - 20,747,487CLINVAR
Build 36519,893,254 - 20,783,244CLINVAR
Cytogenetic Map55p14.3CLINVAR
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: 8618716
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.