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Variant : CV73449 (GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1) Homo sapiens

Symbol: CV73449
Name: GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1
Condition: Global developmental delay [RCV000052644]|See cases [RCV000052644]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAM8   ADGRA1   ADGRA1-AS1   CALY   CFAP46   CYP2E1   ECHS1   FUOM   INPP5A   KNDC1   LINC01165   LINC01166   LINC01167   LINC01168   MIR202   MIR202HG   MIR3944   MTG1   NKX6-2   PAOX   PRAP1   SPRN   SYCE1   TUBGCP2   UTF1   VENTX   ZNF511  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_132475849)_(133620674_?)del
Human AssemblyChrPosition (strand)Source
GRCh3810132,475,849 - 133,620,674CLINVAR
GRCh3710134,289,353 - 135,434,178CLINVAR
Build 3610134,139,343 - 135,284,168CLINVAR
Cytogenetic Map1010q26.3CLINVAR
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: 8619619
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.