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    | Variant #0000368447 (NC_000023.10:g.99663534del, NM_001184880.1:c.64del (PCDH19))
        
          | Individual ID | 00163972 |  
          | Chromosome | X |  
          | Allele | Unknown |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.99663534del |  
          | DNA change (hg38) | g.100408536del |  
          | Published as | 64delC |  
          | ISCN | - |  
          | DB-ID | PCDH19_000164 |  
          | Variant remarks | - |  
          | Reference | - |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | De novo |  
          | Segregation | yes |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Xiaoxu Yang |  
          | Database submission license | No license selected |  
          | Created by | Xiaoxu Yang |  
          | Date created | 2018-04-30 10:44:38 +02:00 (CEST) |  
          | Date last edited | 2020-07-20 17:37:34 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
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