| Variant #0000615224 (NC_000015.9:g.31359348G>A, NM_002420.5:c.470C>T (TRPM1))
        
          | Chromosome | 15 |  
          | 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.31359348G>A |  
          | DNA change (hg38) | g.31067145G>A |  
          | Published as | TRPM1(NM_001252020.1):c.587C>T (p.S196F), TRPM1(NM_001252020.2):c.587C>T (p.S196F) |  
          | ISCN | - |  
          | DB-ID | TRPM1_000090 See all 7 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) | 0.0032 View details |  
          | Owner | VKGL-NL_Rotterdam |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_Rotterdam |  
          | Date created | 2019-12-04 15:24:38 +01:00 (CET) |  
          | Date last edited | 2023-01-11 15:44:22 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
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