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Variant : CV74053 (GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1) Homo sapiens

Symbol: CV74053
Name: GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1
Condition: Global developmental delay [RCV000053300]|See cases [RCV000053300]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: COPS4   COQ2   ENOPH1   HELQ   HNRNPD   HNRNPDL   HPSE   LIN54   LINC00575   MIR575   PLAC8   SCD5   SEC31A   SNORD143   SNORD144   THAP9   THAP9-AS1   TMEM150C  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_81802008)_(83437114_?)del
NC_000004.11:g.(?_82723161)_(84358267_?)del
NC_000004.10:g.(?_82942185)_(84577291_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38481,802,008 - 83,437,114CLINVAR
GRCh37482,723,161 - 84,358,267CLINVAR
Build 36482,942,185 - 84,577,291CLINVAR
Cytogenetic Map44q21.22-21.23CLINVAR
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: 8620237
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
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.