| Variant #0000467293 (NC_000017.10:g.78187707_78194799del, NC_000017.10(NM_000199.3):c.-687_664-23del (SGSH))
        
          | Individual ID | 00226369 |  
          | Chromosome | 17 |  
          | Allele | Parent #2 |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | pathogenic (recessive) |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.78187707_78194799del |  
          | DNA change (hg38) | g.80213908_80221000del |  
          | Published as | g.75802301_75809393del |  
          | ISCN | - |  
          | DB-ID | SGSH_000042 See all 2 reported entries |  
          | Variant remarks | - |  
          | Reference | PubMed: Ouesleti 2011 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2019-03-08 20:44:18 +01:00 (CET) |  
          | Date last edited | 2019-03-08 20:45:48 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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