| Variant #0000439014 (NC_000020.10:g.44047933A>G, NC_000020.10(NM_015937.5):c.494-2A>G (PIGT))
        
          | Chromosome | 20 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Probably affects function |  
          | Affects function (by curator) | Probably affects function |  
          | Classification method | - |  
          | Clinical classification | likely pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.44047933A>G |  
          | DNA change (hg38) | g.45419293A>G |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | PIGT_000027 |  
          | Variant remarks | - |  
          | Reference | PubMed: Knaus et al. 2018 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline/De novo (untested) |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 5.0E-5 View details |  
          | Owner | Philippe Campeau |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Philippe Campeau |  
          | Date created | 2018-12-03 22:24:09 +01:00 (CET) |  
          | Date last edited | 2020-07-16 17:41:02 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
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