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    | Variant #0000829298 (NC_000023.10:g.18687473_18691946del, NC_000023.10(NM_000330.3):c.-1758_52+2664del (RS1))
        
          | Individual ID | 00396087 |  
          | Chromosome | X |  
          | Allele | Unknown |  
          | 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.18687473_18691946del |  
          | DNA change (hg38) | g.18669353_18673826del |  
          | Published as | c.(-35)-1723_c.51+2664del4472 |  
          | ISCN | - |  
          | DB-ID | RS1_000324 |  
          | Variant remarks | error in annotation, exon 1 is ending on nucleotide 52 |  
          | Reference | PubMed: D'Souza |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Unknown |  
          | Segregation | ? |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | LOVD |  
          | Database submission license | Creative Commons Attribution 4.0 International   |  
          | Created by | Anna Tracewska |  
          | Date created | 2021-12-13 12:50:19 +01:00 (CET) |  
          | Date last edited | 2024-12-22 10:52:33 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
 
 
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