|   
  
    | Variant #0000954325 (NC_000003.11:g.68954397_71064930inv, NM_032682.5:c.870-127_*4533{1}inv (FOXP1))
        
          | Individual ID | 00444499 |  
          | Chromosome | 3 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | ACMG |  
          | Clinical classification | pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.68954397_71064930inv |  
          | DNA change (hg38) | g.68905246_71015779inv |  
          | Published as | NM_001244813.1:c.570-127_*2054002inv |  
          | ISCN | - |  
          | DB-ID | FOXP1_000096 |  
          | Variant remarks | ACMG PVS1, PS2, PM2; copy neutral inversion not detected by WES incl. FOXP1, KBTBD8, SUCLG2, FAM19A1, FAM19A4 |  
          | Reference | PubMed: Riquin 2023 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | De novo |  
          | 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 | 2023-12-24 18:16:19 +01:00 (CET) |  
          | Date last edited | 2023-12-26 17:23:59 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
 |  
 
    Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
    Use our APIs  to retrieve data.
 |