Hypothesis

1 Matching Annotations

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

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  p.Asp22Asn
  
  CaseF1:III-1: Female, Italy
  
  CasePresentingHPOs: HP:0001634 (Mitral valve prolapse)
  
  CaseAddInfo: Proband for F1
  
  Individual CaseInfo CA390187249 inferred_gene_hgnc:163 inferred_gene_source:CAID UNC Biocuration Core
Visit annotations in context

Tags

UNC Biocuration Core

CaseInfo

inferred_gene_source:CAID

inferred_gene_hgnc:163

Individual

CA390187249

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4311232/