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    | Variant #0000154136 (NC_000005.9:g.176820767_176820770del, NC_000005.9(NM_003052.4):c.1006+3_1006+6del (SLC34A1))
        
          | Individual ID | 00095168 |  
          | Chromosome | 5 |  
          | Allele | Parent #1 |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.176820767_176820770del |  
          | DNA change (hg38) | g.177393766_177393769del |  
          | Published as | IVS9+3_+6del |  
          | ISCN | - |  
          | DB-ID | SLC34A1_000007 |  
          | Variant remarks | - |  
          | Reference | PubMed: Schlingmann 2016, Journal: Schlingmann 2016 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | yes |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2017-01-07 11:15:15 +01:00 (CET) |  
          | Date last edited | 2020-06-18 11:08:07 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
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