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Variant : CV71725 (GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1) Homo sapiens

Symbol: CV71725
Name: GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1
Condition: Global developmental delay [RCV000050765]|See cases [RCV000050765]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AGPS   ATF2   ATP5MC3   CDCA7   CHN1   CHRNA1   CIR1   EVX2   GPR155   HAGLR   HAGLROS   HNRNPA3   HOXD-AS2   HOXD1   HOXD10   HOXD11   HOXD12   HOXD13   HOXD3   HOXD4   HOXD8   HOXD9   LINC01116   LINC01117   LINC01305   LINC01960   LNPK   MAP3K20   MAP3K20-AS1   MIR10B   MIR1246   MIR3128   MIR4444-1   MIR6512   MIR7704   MIR933   MTX2   NFE2L2   OLA1   RAPGEF4   SCRN3   SP3   SP9   TTC30B   WIPF1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_172779876)_(177598000_?)del
NC_000002.11:g.(?_173644604)_(178462728_?)del
NC_000002.10:g.(?_173352850)_(178170974_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382172,779,876 - 177,598,000CLINVAR
GRCh372173,644,604 - 178,462,728CLINVAR
Build 362173,352,850 - 178,170,974CLINVAR
Cytogenetic Map22q31.1-31.2CLINVAR
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: 8617844
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.