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Variant : CV72943 (GRCh38/hg38 14q32.33(chr14:104309234-104898546)x3) Homo sapiens

Symbol: CV72943
Name: GRCh38/hg38 14q32.33(chr14:104309234-104898546)x3
Condition: See cases [RCV000052101]
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: ADSS1   AKT1   C14orf180   CEP170B   INF2   LINC00638   LINC02280   MIR12121   MIR4710   SIVA1   TMEM179   ZBTB42  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_104309234)_(104898546_?)dup
NC_000014.8:g.(?_104775571)_(105364883_?)dup
NC_000014.7:g.(?_103846616)_(104435928_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3814104,309,234 - 104,898,546CLINVAR
GRCh3714104,775,571 - 105,364,883CLINVAR
Build 3614103,846,616 - 104,435,928CLINVAR
Cytogenetic Map1414q32.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619105
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.