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Variant : CV71854 (GRCh38/hg38 11q25(chr11:134232099-134998513)x1) Homo sapiens

Symbol: CV71854
Name: GRCh38/hg38 11q25(chr11:134232099-134998513)x1
Condition: See cases [RCV000050928]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACAD8   B3GAT1   B3GAT1-DT   GLB1L2   GLB1L3   LINC02697   LINC02706   LINC02714   THYN1   VPS26B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_134232099)_(134998513_?)del
NC_000011.9:g.(?_134101993)_(134868407_?)del
NC_000011.8:g.(?_133607203)_(134373617_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3811134,232,099 - 134,998,513CLINVAR
GRCh3711134,101,993 - 134,868,407CLINVAR
Build 3611133,607,203 - 134,373,617CLINVAR
Cytogenetic Map1111q25CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617989
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.