| Variant #0000013615 (NC_000016.9:g.88842953G>A, NC_000016.9(NM_001142864.2):c.64+8356C>T (PIEZO1))
        
          | Individual ID | 00000209 |  
          | Chromosome | 16 |  
          | Allele | Both (homozygous) |  
          | Affects function (as reported) | Probably does not affect function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | likely benign |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.88842953G>A |  
          | DNA change (hg38) | g.88776545G>A |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | PIEZO1_000001 |  
          | Variant remarks | - |  
          | Reference | - |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Yu Sun |  
          | Database submission license | Creative Commons Attribution-ShareAlike 4.0 International   |  
          | Created by | Ivo F.A.C. Fokkema |  
          | Date created | 2012-09-13 12:10:46 +02:00 (CEST) |  
          | Date last edited | 2015-09-11 19:05:28 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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