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    | Variant #0000909001 (NC_000018.9:g.10731459dup, NM_001378183.1:c.4981dup (PIEZO2))
        
          | Individual ID | 00428071 |  
          | Chromosome | 18 |  
          | Allele | Maternal (confirmed) |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | VUS |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.10731459dup |  
          | DNA change (hg38) | g.10731461= |  
          | Published as | 4807dupA |  
          | ISCN | - |  
          | DB-ID | PIEZO2_000127 |  
          | Variant remarks | variant shared with unaffected mother |  
          | Reference | PubMed: Paul 2023, Journal: Paul 2023 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2022-12-21 11:13:02 +01:00 (CET) |  
          | Date last edited | N/A |   
 
 
 
       
 
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