| Variant #0000454600 (NC_000009.11:g.[NC_000010.10:(97000001_99300000)_qter]delinspter_(4600001_9000000)inv)
        
          | Individual ID | 00218598 |  
          | Chromosome | 9 |  
          | Allele | Unknown |  
          | 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.[NC_000010.10:(97000001_99300000)_qter]delinspter_(4600001_9000000)inv |  
          | DNA change (hg38) | - |  
          | Published as | - |  
          | ISCN | 46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2) |  
          | DB-ID | chr9_004322 |  
          | Variant remarks | - |  
          | Reference | PubMed: Zigman 1997 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | DUPLICATE record |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Genomic location of variant could not be determined |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2019-01-30 16:14:39 +01:00 (CET) |  
          | Date last edited | 2020-05-12 19:21:26 +02:00 (CEST) |  
 
 
       
 
 Variant on transcripts
 
 Screenings
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