| Variant #0000881406 (NC_000012.11:g.49432165C>A, NM_003482.3:c.8974G>T (KMT2D))
        
          | Individual ID | 00419681 |  
          | Chromosome | 12 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Probably affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | ACMG |  
          | Clinical classification | likely pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.49432165C>A |  
          | DNA change (hg38) | g.49038382C>A |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | KMT2D_001074 |  
          | Variant remarks | - |  
          | Reference | - |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | De novo |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | MariaGnazzo |  
          | Database submission license | No license selected |  
          | Created by | MariaGnazzo |  
          | Date created | 2022-10-21 11:55:39 +02:00 (CEST) |  
          | Date last edited | 2022-10-23 15:29:05 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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