Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review

Table 1 Pathogenicity analysis of the two FARS2 variants

Gene	Mutations	Amino acid change	Status	Normal population carrying rate	Validation of pedigree	ACMG Rating of variation	HGMD Transcriptional version of the gene subregion	References
FARS2	c.119_120del	p.E40Vfs*87	Novel	-	Father source	Likely pathogenic	NM_006567.3 exon2	-
FARS2	c.467C > T	p.T156M	Known	0.0000886	Mother source	Likely pathogenic	NM_006567.3 exon2	PubMed_ID:27652284

ACMG American College of Medical Genetics and Genomics, HGMD Human Gene Mutation Database

ISSN: 1471-2377