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    | Variant #0000304664 (NC_000011.9:g.71727119T>C, NM_001145309.3:c.-65355T>C (LRTOMT))
        
          | Chromosome | 11 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Probably does not affect function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | likely benign |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.71727119T>C |  
          | DNA change (hg38) | g.72016073T>C |  
          | Published as | NUMA1(NM_001286561.1):c.1430A>G (p.N477S) |  
          | ISCN | - |  
          | DB-ID | NUMA1_000002 |  
          | Variant remarks | VKGL data sharing initiative Nederland |  
          | Reference | - |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | CLASSIFICATION record |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 0.00318 View details |  
          | Owner | VKGL-NL_Rotterdam |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_Rotterdam |  
          | Date created | 2018-01-15 20:58:59 +01:00 (CET) |  
          | Date last edited | 2020-03-23 16:13:27 +01:00 (CET) |   
 
 
 
       
 
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