| Variant #0000677292 (NC_000004.11:g.56236252_56236256del, NM_024592.4:c.951_955del (SRD5A3))
        
          | Chromosome | 4 |  
          | 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.56236252_56236256del |  
          | DNA change (hg38) | - |  
          | Published as | SRD5A3(NM_024592.4):c.951_955delGTTTT (p.F318Sfs*2), SRD5A3(NM_024592.5):c.951_955del (p.(Phe318Ser)), SRD5A3(NM_024592.5):c.951_955delGTTTT (p.F3...) |  
          | ISCN | - |  
          | DB-ID | SRD5A3_000004 See all 4 reported entries |  
          | 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) | Retrieve |  
          | Owner | VKGL-NL_Groningen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_Groningen |  
          | Date created | 2020-08-06 14:59:34 +02:00 (CEST) |  
          | Date last edited | 2025-05-05 21:14:00 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
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