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    | Variant #0000633921 (NC_000016.9:g.(?_2097990)_(2114429_2115519)del, NC_000016.9(NM_000548.3):c.(?_-106)_(1599+1_1600-1)del (TSC2))
        
          | Individual ID | 00277599 |  
          | Chromosome | 16 |  
          | 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.(?_2097990)_(2114429_2115519)del |  
          | DNA change (hg38) | g.(?_2047989)_(2064428_2065518)del |  
          | Published as | TSC2del 5'3-e14 |  
          | ISCN | - |  
          | DB-ID | TSC2_003475 See all 4 reported entries |  
          | Variant remarks | ex 1-15 del; del extends >15kb 5' of TSC2,  involves SLC9A3R2 and NTHL1 genes, ends in intron 15 |  
          | Reference | PubMed: Au, 2007, PubMed: Kozlowski, 2007 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Rosemary Ekong |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Rosemary Ekong |  
          | Date created | 2007-01-28 16:40:00 +01:00 (CET) |  
          | Date last edited | 2021-04-23 13:58:39 +02:00 (CEST) |   
 
 
 
       
 
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