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Variant : CV74388 (GRCh38/hg38 11q25(chr11:131311972-134998654)x3) Homo sapiens

Symbol: CV74388
Name: GRCh38/hg38 11q25(chr11:131311972-134998654)x3
Condition: See cases [RCV000053659]
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   AP003025.1   B3GAT1   B3GAT1-DT   GLB1L2   GLB1L3   IGSF9B   JAM3   LINC02697   LINC02706   LINC02714   LINC02731   LINC02743   MIR4697   NCAPD3   NTM   NTM-AS1   NTM-IT   OPCML   SNORD153   SPATA19   THYN1   VPS26B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_131311972)_(134998654_?)dup
NC_000011.9:g.(?_131181867)_(134868548_?)dup
NC_000011.8:g.(?_130687077)_(134373758_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811131,311,972 - 134,998,654CLINVAR
GRCh3711131,181,867 - 134,868,548CLINVAR
Build 3611130,687,077 - 134,373,758CLINVAR
Cytogenetic Map1111q25CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620578
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.