| Variant #0000531265 (NC_000007.13:g.150652514G>A, NC_000007.13(NM_000238.3):c.1128+1865C>T (KCNH2))
        
          | Chromosome | 7 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Probably does not affect function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | likely benign |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.150652514G>A |  
          | DNA change (hg38) | g.150955426G>A |  
          | Published as | KCNH2(NM_001204798.1):c.78C>T (p.(=)), KCNH2(NM_172057.2):c.78C>T (p.A26=), KCNH2(NM_172057.3):c.78C>T (p.A26=) |  
          | ISCN | - |  
          | DB-ID | KCNH2_001253 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) | 0.00043 View details |  
          | Owner | VKGL-NL_Leiden |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_Leiden |  
          | Date created | 2019-07-18 18:22:55 +02:00 (CEST) |  
          | Date last edited | 2023-01-11 15:44:22 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
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