| Variant #0000352211 (NC_000009.11:g.134395562G>C, NM_007171.3:c.1746G>C (POMT1))
        
          | Individual ID | 00152348 |  
          | Chromosome | 9 |  
          | Allele | Parent #2 |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.134395562G>C |  
          | DNA change (hg38) | g.131520175G>C |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | POMT1_000017 See all 2 reported entries |  
          | Variant remarks | - |  
          | Reference | PubMed: van Reeuwijk 2006, PubMed: Manya 2008, PubMed: Messina 2008, PubMed: Mercuri 2009, OMIM:var0007 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Rosário dos Santos |  
          | Database submission license | No license selected |  
          | Created by | Rosário dos Santos |  
          | Date created | 2008-06-06 18:42:22 +02:00 (CEST) |  
          | Date last edited | 2018-02-05 18:52:04 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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