| Variant #0000909828 (NC_000005.9:g.127512802G>A, NM_001046.2:c.2935G>A (SLC12A2))
        
          | Individual ID | 00428680 |  
          | Chromosome | 5 |  
          | Allele | Maternal (confirmed) |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | ACMG |  
          | Clinical classification | pathogenic (dominant) |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.127512802G>A |  
          | DNA change (hg38) | g.128177110G>A |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | SLC12A2_000012 |  
          | Variant remarks | - |  
          | Reference | PubMed: Wonkam 2022 |  
          | ClinVar ID | - |  
          | dbSNP ID | rs1581138934 |  
          | Origin | Germline |  
          | Segregation | yes |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Yacouba Dia |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Yacouba Dia |  
          | Date created | 2023-01-06 16:25:23 +01:00 (CET) |  
          | Date last edited | 2023-02-10 09:29:49 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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