| Variant #0000298151 (NC_000010.10:g.81371729C>G, NM_005411.4:c.148C>G (SFTPA1))
        
          | Chromosome | 10 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Does not affect function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | benign |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.81371729C>G |  
          | DNA change (hg38) | g.79611973C>G |  
          | Published as | SFTPA1(NM_005411.5):c.148C>G (p.L50V) |  
          | ISCN | - |  
          | DB-ID | SFTPA1_000001 |  
          | 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) | 0.49519 View details |  
          | Owner | VKGL-NL_Groningen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_Groningen |  
          | Date created | 2018-01-15 20:58:59 +01:00 (CET) |  
          | Date last edited | 2021-09-17 14:40:49 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
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