| Variant #0000405313 (NC_000001.10:g.65333857G>C, NC_000001.10(NM_002227.2):c.648-966C>G (JAK1))
        
          | Individual ID | 00180680 |  
          | Chromosome | 1 |  
          | 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.65333857G>C |  
          | DNA change (hg38) | g.64868174G>C |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | JAK1_000005 |  
          | Variant remarks | for details see the Uveogene database |  
          | Reference | PubMed: Yang 2013 |  
          | ClinVar ID | - |  
          | dbSNP ID | rs310236 |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | 440/1474 cases |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Peizeng Yang |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2018-09-07 14:35:38 +02:00 (CEST) |  
          | Date last edited | 2018-09-07 15:00:54 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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