Skip to main content

Table 2 Genetic variation highly related to the clinical phenotype of the subjects

From: A novel missense mutation of FOXC1 in an Axenfeld–Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review

Gene Chromosomal Location Transcriptional exons Nucleotides and amino acids Homozygous/heterozygous Normal frequency Calculate Pathogenicity analysis Mode of inheritance The phenotype of diseases Source of variation
FOXC1 chr6-1610926 NM_001453;exon1 c.246C > A(p.S82R) Het P Likely pathogenic 1.AD
2.AD
1.Axenfeld–Rieger syndrome (Type 3);
2.Iridodystrophy (Type 1)
de novo mutation
  1. Prediction, protein function prediction software REVEL (rare exome variant ensemble learner); P, prediction is harmful; B, prediction is benign; –, unknown