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    | Variant #0000058937 (NC_000023.10:g.99663235C>T, NM_001184880.1:c.361G>A (PCDH19))
        
          | Individual ID | 00032701 |  
          | Chromosome | X |  
          | Allele | Parent #1 |  
          | 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.99663235C>T |  
          | DNA change (hg38) | g.100408237C>T |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | PCDH19_000019 See all 3 reported entries |  
          | Variant remarks | missense change; no variants SCN1A gene; not in 180 control individuals |  
          | Reference | PubMed: Depienne 2009 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Unknown |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Christel Depienne |  
          | Database submission license | No license selected |  
          | Created by | Christel Depienne |  
          | Date created | 2011-12-12 23:19:57 +01:00 (CET) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
 
 
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