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Variant : CV74610 (GRCh38/hg38 3p26.3(chr3:171028-1018461)x1) Homo sapiens

Symbol: CV74610
Name: GRCh38/hg38 3p26.3(chr3:171028-1018461)x1
Condition: Global developmental delay [RCV000053887]|See cases [RCV000053887]
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 loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_171028)_(1018461_?)del
NC_000003.11:g.(?_212711)_(1060145_?)del
NC_000003.10:g.(?_187711)_(1035145_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383171,028 - 1,018,461CLINVAR
GRCh373212,711 - 1,060,145CLINVAR
Build 363187,711 - 1,035,145CLINVAR
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: 8620802
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.