| Variant #0000075199 (NC_000013.10:g.31821256C>G, NC_000013.10(NM_194318.3):c.347+20C>G (B3GLCT))
        
          | Individual ID | 00000019 |  
          | Chromosome | 13 |  
          | 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.31821256C>G |  
          | DNA change (hg38) | g.31247119C>G |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | B3GLCT_000010 See all 7 reported entries |  
          | Variant remarks | - |  
          | Reference | PubMed: Almomani 2011 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 0.35943 View details |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Gerard C.P. Schaafsma |  
          | Date created | 2012-05-01 14:57:47 +02:00 (CEST) |  
          | Date last edited | 2018-08-26 14:16:48 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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