|   
  
    | Variant #0000828442 (NC_000014.8:g.77771103T>C, NM_013382.5:c.479A>G (POMT2))
        
          | Individual ID | 00395536 |  
          | Chromosome | 14 |  
          | Allele | Parent #1 |  
          | Affects function (as reported) | Probably affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | likely pathogenic (recessive) |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.77771103T>C |  
          | DNA change (hg38) | g.77304760T>C |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | POMT2_000214 See all 2 reported entries |  
          | Variant remarks | - |  
          | Reference | PubMed: Chen 2021 |  
          | 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 | 2021-12-07 17:31:19 +01:00 (CET) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
 |  
 
    Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
    Use our APIs  to retrieve data.
 |