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    | Variant #0000703363 (NC_000007.13:g.44151537T>C, NM_001129.4:c.1925T>C (AEBP1))
        
          | Individual ID | 00319461 |  
          | Chromosome | 7 |  
          | Allele | Both (homozygous) |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Affects function |  
          | Classification method | - |  
          | Clinical classification | pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.44151537T>C |  
          | DNA change (hg38) | - |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | AEBP1_000004 |  
          | Variant remarks | - |  
          | Reference | PubMed: Ritelli et al., 2019 |  
          | ClinVar ID | - |  
          | dbSNP ID | rs753531562 |  
          | Origin | Unknown |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 1.0E-5 View details |  
          | Owner | Marco Ritelli, Marina Colombi |  
          | Database submission license | No license selected |  
          | Created by | Marco Ritelli, Marina Colombi |  
          | Date created | 2018-11-16 11:12:08 +01:00 (CET) |  
          | Date last edited | 2019-05-02 13:53:23 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
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