| Variant #0000703990 (NC_000017.10:g.42426921T>C, NC_000017.10(NM_002087.2):c.264+2T>C (GRN))
        
          | Individual ID | 00320003 |  
          | Chromosome | 17 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Probably affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | ACMG |  
          | Clinical classification | likely pathogenic (dominant) |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.42426921T>C |  
          | DNA change (hg38) | - |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | GRN_000171 |  
          | Variant remarks | ACMG: PVS1, PM2 (predicted in-frame exon 3 skipping, exon 3 contains functional "granulin" domain) |  
          | Reference | - |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | ? |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Andreas Laner |  
          | Database submission license | Creative Commons Attribution 4.0 International   |  
          | Created by | Andreas Laner |  
          | Date created | 2020-11-17 15:52:33 +01:00 (CET) |  
          | Date last edited | 2020-11-17 17:21:00 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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