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    | Variant #0000896982 (NC_000019.9:g.6713298A>G, NM_000064.2:c.905T>C (C3))
        
          | Individual ID | 00420782 |  
          | Chromosome | 19 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | likely pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.6713298A>G |  
          | DNA change (hg38) | - |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | C3_000163 |  
          | Variant remarks | Leu302 position located in the MG3 domain of C3, playing a critical role in the conversion from C3 to C3b. p.(Leu302Pro) variant product was not secreted from the cells after transient transfection.
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          | Reference | PubMed: Mohlin 2018, Journal: Mohlin 2018 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Christian Drouet |  
          | Database submission license | Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International   |  
          | Created by | Christian Drouet |  
          | Date created | 2022-11-02 17:59:02 +01:00 (CET) |  
          | Date last edited | 2022-11-25 09:10:32 +01:00 (CET) |   
 
 
 
       
 
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