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Table 1 The information of variants

From: Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report

Gene name

Chromosome localization (GRCh37/hg19)

Variant

NM

Location

Homozygosis/Heterozygosis

Amino acid alteration

Inheritance model

Variation source

ECHS1

Chr10:135183403

c.414 + 5G > A

NM_004092.3

Intron3

Heterozygosis

N/A

Autosomal recessive inheritance

Father

Chr10:135183512

c.310C > G

CDS

Heterozygosis

p.Q104E

Autosomal recessive inheritance

Mather