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    | Variant #0000873349 (NC_000015.9:g.31369151G>A, NC_000015.9(NM_002420.5):c.1-27C>T (TRPM1))
        
          | Individual ID | 00414270 |  
          | Chromosome | 15 |  
          | Allele | Both (homozygous) |  
          | Affects function (as reported) | Probably affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | likely pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.31369151G>A |  
          | DNA change (hg38) | g.31076948G>A |  
          | Published as | TRPM1 c.1-27C>T (70+TRPM1), 50 UTR expression defect |  
          | ISCN | - |  
          | DB-ID | TRPM1_000136 See all 3 reported entries |  
          | Variant remarks | different transcript - NM_001252024.1(TRPM1):c.40C>T, p.(Arg14Trp); homozygous; not certain which transcript makes it causative |  
          | Reference | PubMed: Audo 2009 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | ? |  
          | Frequency | 0/348 control alleles |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 2.0E-5 View details |  
          | Owner | LOVD |  
          | Database submission license | Creative Commons Attribution 4.0 International   |  
          | Created by | Anna Tracewska |  
          | Date created | 2022-07-28 11:52:58 +02:00 (CEST) |  
          | Date last edited | 2022-07-28 11:53:06 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
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