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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 nameChromosome localization (GRCh37/hg19)VariantNMLocationHomozygosis/HeterozygosisAmino acid alterationInheritance modelVariation source
ECHS1Chr10:135183403c.414 + 5G > ANM_004092.3Intron3HeterozygosisN/AAutosomal recessive inheritanceFather
Chr10:135183512c.310C > GCDSHeterozygosisp.Q104EAutosomal recessive inheritanceMather