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Variant : CV71723 (GRCh38/hg38 8q24.21(chr8:127118340-127858575)x3) Homo sapiens

Symbol: CV71723
Name: GRCh38/hg38 8q24.21(chr8:127118340-127858575)x3
Condition: See cases [RCV000050763]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CASC11   CASC19   CASC21   CASC8   CCAT1   CCAT2   LOC106867047   LOC108228207   LOC108254690   LOC108353813   MIR1204   MYC   POU5F1B   PVT1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_127118340)_(127858575_?)dup
NC_000008.10:g.(?_128130585)_(128870821_?)dup
NC_000008.9:g.(?_128199767)_(128940003_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh388127,118,340 - 127,858,575CLINVAR
GRCh378128,130,585 - 128,870,821CLINVAR
Build 368128,199,767 - 128,940,003CLINVAR
Cytogenetic Map88q24.21CLINVAR
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
 
RGD Object Information
RGD ID: 8617842
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
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.