Skip to main content

Table 1 Compound heterozygous variant of B3GAT3 in our patient

From: Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review

Location of HG19 Variant Frequencies Classification of ACMG Origin
Chr11:62384135 c.752T>C, p.V251A < 0.001 VUS Paternal (heterozygote)
Chr11:62389373 c.47C>A, p.S16* LP Maternal (heterozygote)
  1. VUS variant of uncertain significance, LP likely pathogenic