| Variant #0000786726 (NC_000006.11:g.135778795delinsTATTATTTA, NM_001134831.1:c.988delinsTAAATAATA (AHI1))
        
          | Individual ID | 00374181 |  
          | Chromosome | 6 |  
          | Allele | Both (homozygous) |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.135778795delinsTATTATTTA |  
          | DNA change (hg38) | g.135457657delinsTATTATTTA |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | AHI1_000175 |  
          | Variant remarks | - |  
          | Reference | PubMed: Ganapathy 2019 |  
          | ClinVar ID | - |  
          | dbSNP ID | rs777241163 |  
          | 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 | 2021-05-24 20:06:48 +02:00 (CEST) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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