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. 2025 Jul 2;20:333. doi: 10.1186/s13023-025-03860-8

Table 1.

Genetic testing results for the EPP patient

Variant origin Gene Chromosomal location hg19 Nucleotide change Amino acid change Hom/
Het
Variant type dbSNP database Population frequency ExAC ClinVar database (Pathogenicity)
Father FECH Chr18-55226418

c.763G > T

(exon7)

p.Glu255 Het Stop gained NA NA NA
Mother FECH Chr18-55238820 c.315-48T > C(intron3) NA Het Intron rs2272783 0.1073 pathogenic, EPP
Mother FECH Chr18-55247454 c.68–23 C > T(intron1) NA Het Intron rs2269219 0.24669 pathogenic, EPP