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Variant : CV72054 (GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1) Homo sapiens

Symbol: CV72054
Name: GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051165]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051165]|See cases [RCV000051165]
Clinical Significance: uncertain significance
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   CYP2E1   ECHS1   FUOM   KNDC1   MIR202   MIR202HG   MIR3944   MTG1   PAOX   PRAP1   SPRN   SYCE1   TUBGCP2   UTF1   VENTX   ZNF511  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.10:g.(?_134814638)_(135434178_?)del
NC_000010.9:g.(?_134664628)_(135284168_?)del
NC_000010.11:g.(?_133001134)_(133620674_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3810133,001,134 - 133,620,674CLINVAR
GRCh3710134,814,638 - 135,434,178CLINVAR
Build 3610134,664,628 - 135,284,168CLINVAR
Cytogenetic Map1010q26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618205
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.