| Variant #0000651678 (NC_000005.9:g.176813433C>T, NM_003052.4:c.398C>T (SLC34A1))
        
          | Individual ID | 00293821 |  
          | Chromosome | 5 |  
          | Allele | Parent #1 |  
          | Affects function (as reported) | Probably does not affect function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | likely benign |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.176813433C>T |  
          | DNA change (hg38) | g.177386432C>T |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | SLC34A1_000019 See all 5 reported entries |  
          | Variant remarks | 21 heterozygous, no homozygous; Clinindb (India) |  
          | Reference | PubMed: Narang 2020, Journal: Narang 2020 |  
          | ClinVar ID | - |  
          | dbSNP ID | rs148976897 |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | 21/2795 individuals |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 0.00375 View details |  
          | Owner | Mohammed Faruq |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2020-03-11 19:46:11 +01:00 (CET) |  
          | Date last edited | 2020-10-30 12:38:50 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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