| Variant #0000453996 (NC_000011.9:g.(108225602_108235808)_(108239826_?)dup, NC_000011.9(NM_000051.3):c.(8850+1_8851-1)_(*3591_?)dup (ATM))
        
          | Individual ID | 00218080 |  
          | Chromosome | 11 |  
          | Allele | Unknown |  
          | 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.(108225602_108235808)_(108239826_?)dup |  
          | DNA change (hg38) | - |  
          | Published as | dup ex62-63 |  
          | ISCN | - |  
          | DB-ID | ATM_001230 See all 4 reported entries |  
          | Variant remarks | - |  
          | Reference | PubMed: Slavin 2017 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | 3/2134 cases BRCA |  
          | 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 | 2019-01-22 10:33:56 +01:00 (CET) |  
          | Date last edited | 2021-03-04 17:02:22 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
 |