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    | Variant #0001019658 (NC_000023.10:g.18690188T>A, NM_000330.3:c.1A>T (RS1))
        
          | Individual ID | 00459018 |  
          | Chromosome | X |  
          | Allele | Unknown |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | ACMG |  
          | Clinical classification | pathogenic (recessive) |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.18690188T>A |  
          | DNA change (hg38) | g.18672068T>A |  
          | Published as | [35T>A;52+5G>C] |  
          | ISCN | - |  
          | DB-ID | RS1_000160 See all 8 reported entries |  
          | Variant remarks | ACMG PVS1, PS4, PM2, PS3>M, PP3, PP4 |  
          | Reference | PubMed: Bender 2022 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2024-12-24 08:52:01 +01:00 (CET) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
 
 
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