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    | Variant #0000353035 (NC_000011.9:g.46911492T>A, NC_000011.9(NM_002334.3):c.(2092+3A>T) (LRP4))
        
          | Individual ID | 00152956 |  
          | Chromosome | 11 |  
          | Allele | Both (homozygous) |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.46911492T>A |  
          | DNA change (hg38) | g.46889941T>A |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | LRP4_000000 See all 4 reported entries |  
          | Variant remarks | few percent normal mRNA |  
          | Reference | PubMed: Simon-Chazottes 2006 |  
          | 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 | 2010-06-11 14:44:05 +02:00 (CEST) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
 
 
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