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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
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BMC Medical Genomics

ISSN: 1755-8794

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