| Variant #0000813977 (NC_000009.11:g.102988434A>C, NM_014425.3:c.364A>C (INVS))
        
          | Individual ID | 00385225 |  
          | Chromosome | 9 |  
          | 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.102988434A>C |  
          | DNA change (hg38) | - |  
          | Published as | c.[364A>C];[=] |  
          | ISCN | - |  
          | DB-ID | INVS_000033 |  
          | Variant remarks | normal 2nd chromosome |  
          | Reference | PubMed: Redin-2012 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 1.0E-5 View details |  
          | Owner | LOVD |  
          | Database submission license | Creative Commons Attribution 4.0 International   |  
          | Created by | Julia Lopez |  
          | Date created | 2021-10-09 03:44:00 +02:00 (CEST) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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