Hypothesis

2 Matching Annotations

Last 7 days
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus

2
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  affected daughter
  
  Case# II-1, Female, Caucasian
  
  CasePresentingHPOs HP:0001643
  
  CaseMethod1 WES
  
  CaseMethod2 PCR
  
  Variant NM_001136239.3(PRDM6):c.1385A>G (p.Gln462Arg)
  
  ClinVar 243051
  
  gnomAD 0.00001728 (European (Non-Finnish))
  
  VariantEvidence no variant evidence, computational
  
  Case CaseInfo Individual inferred_gene_hgnc:9350 inferred_gene_source:RefSeq UNC Biocuration Core
2. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  affected daughter
  
  Case# II-1, Female, Caucasian
  
  CasePresentingHPOs HP:0001643
  
  CaseMethod1 WES
  
  CaseMethod2 PCR
  
  Variant NM_001136239.3(PRDM6):c.1385A>G (p.Gln462Arg)
  
  ClinVar 243051
  
  gnomAD 0.00001728 (European (Non-Finnish))
  
  VariantEvidence no variant evidence, computational
  
  Case CaseInfo Individual inferred_gene_hgnc:9350 inferred_gene_source:RefSeq UNC Biocuration Core
Visit annotations in context

Tags

UNC Biocuration Core

inferred_gene_source:RefSeq

CaseInfo

Individual

Case

inferred_gene_hgnc:9350

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4908195/