| Variant #0000936507 (NC_000023.10:g.91548808_99612513del, NM_001184880.1:c.2617-6811_*4633{0} (PCDH19))
        
          | Individual ID | 00438596 |  
          | 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.91548808_99612513del |  
          | DNA change (hg38) | g.92293810_100357515del |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | PCDH19_000250 |  
          | Variant remarks | - |  
          | Reference | PubMed: Hamdan 2017 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | De novo |  
          | 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 | 2023-10-21 21:28:18 +02:00 (CEST) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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