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    | Variant #0000078643 (NC_000018.9:g.10689744G>A, NM_001378183.1:c.7406C>T (PIEZO2))
        
          | Individual ID | 00049817 |  
          | Chromosome | 18 |  
          | Allele | Parent #1 |  
          | Affects function (as reported) | Probably affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | likely pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.10689744G>A |  
          | DNA change (hg38) | g.10689746G>A |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | PIEZO2_000012 See all 3 reported entries |  
          | Variant remarks | - |  
          | Reference | PubMed: McMillin 2014, Journal: McMillin 2014 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | yes |  
          | 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 | 2015-09-12 18:49:49 +02:00 (CEST) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
 
 
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