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Variant : CV72545 (GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3) Homo sapiens

Symbol: CV72545
Name: GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051692]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051692]|See cases [RCV000051692]
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   CFAP46   ECHS1   FUOM   INPP5A   KNDC1   LINC01165   LINC01166   LINC01167   LINC01168   LINC02870   MIR202   MIR202HG   MIR3944   MTG1   NKX6-2   PAOX   PRAP1   TUBGCP2   UTF1   VENTX   ZNF511  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.10:g.(?_134258887)_(135211969_?)dup
NC_000010.9:g.(?_134108877)_(135061959_?)dup
NC_000010.11:g.(?_132445383)_(133398465_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3810132,445,383 - 133,398,465CLINVAR
GRCh3710134,258,887 - 135,211,969CLINVAR
Build 3610134,108,877 - 135,061,959CLINVAR
Cytogenetic Map1010q26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618705
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.