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Variant : CV72829 (GRCh38/hg38 13q12.12(chr13:23172478-23671209)x3) Homo sapiens

Symbol: CV72829
Name: GRCh38/hg38 13q12.12(chr13:23172478-23671209)x3
Condition: Global developmental delay [RCV000051983]|See cases [RCV000051983]
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: LINC00327   SACS   SACS-AS1   SGCG   TNFRSF19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_23172478)_(23671209_?)dup
NC_000013.10:g.(?_23746617)_(24245348_?)dup
NC_000013.9:g.(?_22644617)_(23143348_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381323,172,478 - 23,671,209CLINVAR
GRCh371323,746,617 - 24,245,348CLINVAR
Build 361322,644,617 - 23,143,348CLINVAR
Cytogenetic Map1313q12.12CLINVAR
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: 8618991
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.