Skip to main content

Table 3 Population frequency of SLC25A19 variants

From: Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4

Patients Gene Transcript Variants Zygosity Carrier gnomAD
East Asian
1000 genomes dbSNP
1 SLC25A19 NM_00112
c.169G>C p.Ala57Thr Heterozygous Father 5.789e−05 rs766616256
c.383C>T p.Ala128Val Heterozygous Mother
2 and 3    c.76G>A p.Gly26Arg Heterozygous Father 0.0005 0.001 rs181826033
c.745T>A p.Phe249Ile Heterozygous Mother