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Variant : CV73231 (GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1) Homo sapiens

Symbol: CV73231
Name: GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1
Condition: Global developmental delay [RCV000052412]|See cases [RCV000052412]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: APBA2   ARHGAP11B   CHRFAM7A   CHRNA7   FAM189A1   FAN1   GOLGA8H   GOLGA8J   GOLGA8Q   GOLGA8R   GOLGA8T   KLF13   LINC02249   LINC02352   MIR211   MTMR10   NSMCE3   OTUD7A   TJP1   TRPM1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_28918473)_(32149250_?)del
NC_000015.9:g.(?_29210676)_(32441451_?)del
NC_000015.8:g.(?_26997968)_(30228743_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381528,918,473 - 32,149,250CLINVAR
GRCh371529,210,676 - 32,441,451CLINVAR
Build 361526,997,968 - 30,228,743CLINVAR
Cytogenetic Map1515q13.1-13.3CLINVAR
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: 8619399
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-15
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.