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    | Variant #0000147181 (NC_000003.11:g.112299935T>C, NM_017945.2:c.971T>C (SLC35A5))
        
          | Individual ID | 00089106 |  
          | Chromosome | 3 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Effect unknown |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | VUS |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.112299935T>C |  
          | DNA change (hg38) | g.112581088T>C |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | SLC35A5_000001 |  
          | Variant remarks | - |  
          | Reference | PubMed: Poirier 2017, Journal: Poirier 2017 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | no |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 3.0E-5 View details |  
          | Owner | Karine Poirier |  
          | Database submission license | No license selected |  
          | Created by | Karine Poirier |  
          | Date created | 2016-11-29 12:11:10 +01:00 (CET) |  
          | Date last edited | 2017-05-16 11:13:04 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
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