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Variant : CV72373 (GRCh38/hg38 14q21.1(chr14:38817817-40894390)x1) Homo sapiens

Symbol: CV72373
Name: GRCh38/hg38 14q21.1(chr14:38817817-40894390)x1
Condition: Corpus callosum agenesis [RCV000051518]|See cases [RCV000051518]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: FBXO33   GEMIN2   LINC00639   MIA2   PNN   SEC23A   SEC23A-AS1   TRAPPC6B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_38817817)_(40894390_?)del
Human AssemblyChrPosition (strand)Source
GRCh381438,817,817 - 40,894,390CLINVAR
GRCh371439,287,021 - 41,363,595CLINVAR
Build 361438,356,772 - 40,433,345CLINVAR
Cytogenetic Map1414q21.1CLINVAR
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: 8618533
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


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