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Variant : CV74378 (GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3) Homo sapiens

Symbol: CV74378
Name: GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3
Condition: Global developmental delay [RCV000053649]|See cases [RCV000053649]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAM2   ANK1   AP3M2   CEBPD   CHRNA6   CHRNB3   DKK4   EFCAB1   FNTA   GINS4   GOLGA7   GPAT4   HGSNAT   HOOK3   IDO1   IDO2   IGLV8OR8-1   IKBKB   KAT6A   LINC00293   LINC02847   LINC02866   MCM4   MIR4469   MIR486-1   MIR486-2   MIR548AO   NKX6-3   PLAT   POLB   POMK   POTEA   PPDPFL   PRKDC   RNF170   SFRP1   SIRLNT   SLC20A2   SMIM19   SNAI2   SNORD65B   SPIDR   TCIM   THAP1   UBE2V2   VDAC3   ZMAT4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_39830633)_(49209461_?)dup
NC_000008.10:g.(?_39688152)_(50122020_?)dup
NC_000008.9:g.(?_39807309)_(50284573_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38839,830,633 - 49,209,461CLINVAR
GRCh37839,688,152 - 50,122,020CLINVAR
Build 36839,807,309 - 50,284,573CLINVAR
Cytogenetic Map88p11.22-q11.21CLINVAR
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: 8620568
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
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.