| Variant #0000873907 (NC_000003.11:g.132401603G>C, NM_153240.4:c.3756C>G (NPHP3))
        
          | Individual ID | 00414704 |  
          | Chromosome | 3 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Does not affect function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | benign |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.132401603G>C |  
          | DNA change (hg38) | g.132682759G>C |  
          | Published as | NPHP3 3:133884293 (hg18) het CM032020 |  
          | ISCN | - |  
          | DB-ID | NPHP3_000003 See all 3 reported entries |  
          | Variant remarks | non-causative, heterozygous |  
          | Reference | PubMed: Bell 2011 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | ? |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 0.00069 View details |  
          | Owner | LOVD |  
          | Database submission license | Creative Commons Attribution 4.0 International   |  
          | Created by | Anna Tracewska |  
          | Date created | 2022-08-02 11:28:48 +02:00 (CEST) |  
          | Date last edited | 2025-06-08 08:19:41 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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