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Variant : CV74113 (GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1) Homo sapiens

Symbol: CV74113
Name: GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1
Condition: Global developmental delay [RCV000053360]|See cases [RCV000053360]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAD2   ATP2C2   ATP2C2-AS1   C16orf74   CDH13   CIBAR2   COTL1   CRISPLD2   DNAAF1   GINS2   GSE1   HSBP1   HSD17B2   HSDL1   KCNG4   KIAA0513   KLHL36   LINC00311   LINC02139   LINC02176   MBTPS1   MEAK7   MIR12128   MIR3182   MIR5093   MIR8058   MLYCD   MPHOSPH6   NECAB2   OSGIN1   PLCG2   SDR42E1   SLC38A8   TAF1C   USP10   WFDC1   ZDHHC7  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_81753762)_(85714791_?)del
NC_000016.9:g.(?_81787367)_(85748397_?)del
NC_000016.8:g.(?_80344868)_(84305898_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381681,753,762 - 85,714,791CLINVAR
GRCh371681,787,367 - 85,748,397CLINVAR
Build 361680,344,868 - 84,305,898CLINVAR
Cytogenetic Map1616q23.3-24.1CLINVAR
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: 8620297
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.