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    | Variant #0000150167 (NC_000007.13:g.75610876C>T, NM_000941.2:c.683C>T (POR))
        
          | Chromosome | 7 |  
          | Allele | Parent #1 |  
          | Affects function (as reported) | Effect unknown |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | VUS |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.75610876C>T |  
          | DNA change (hg38) | g.75981558C>T |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | POR_000040 See all 6 reported entries |  
          | Variant remarks | - |  
          | Reference | PubMed: GomesĀ 2009 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 0.00246 View details |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution 4.0 International   |  
          | Created by | Julia Lopez |  
          | Date created | 2016-12-15 19:35:13 +01:00 (CET) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
 
 
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