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
Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us